Generation of FOS gene knockout lines from a human embryonic stem cell line using CRISPR/Cas9
Publication date: Available online 5 June 2019Source: Stem Cell ResearchAuthor(s): Chunfu Li, Qing Wang, Zhiyong Peng, Yuchen Lin, Huaying Liu, Xiuling Yang, Shan Li, XiaoTing Liu, Jingru ChenAbstactFOS is component of the AP-1 complex and has been reported to be involved in many cellular functions, including cell proliferation, differentiation, survival, angiogenesis, hematopoiesis and cancer progress. To further understand the exact role of FOS in these processes, here we created two FOS knockout human embryonic stem cell lines by CRISPR/Cas9 mediated gene targeting. These cell lines retained normal morphology and karyot...
Source: Stem Cell Research - June 5, 2019 Category: Stem Cells Source Type: research

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis
Publication date: Available online 3 June 2019Source: Stem Cell ResearchAuthor(s): Nejla Erkilic, Carla Sanjurjo-Soriano, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki KalatzisAbstractThe human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with Autosomal Dominant Leber Congenital Amaurosis (AD LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the CRX gene. We used non-integrative Sendai virus vectors containing the human OSKM transcription factor cocktail to reprogram patient fibroblasts. The generat...
Source: Stem Cell Research - June 4, 2019 Category: Stem Cells Source Type: research

Analysis of lacrimal gland derived mesenchymal stem cell secretome and its impact on epithelial cell survival
Publication date: Available online 4 June 2019Source: Stem Cell ResearchAuthor(s): Jana Dietrich, Mathias Roth, Simone König, Gerd Geerling, Sonja Mertsch, Stefan SchraderAbstractIn situ regeneration of lacrimal gland (LG) tissue would be a promising approach to curatively treat dry eye disease (DED). Mesenchymal stem cells (MSC) exhibit therapeutic effects in a variety of pathological conditions and our group recently reported that their number increases in regenerating mouse LG. Since the therapeutic effects are suggested to arise from secreted trophic factors, the application of MSC-secreted proteins seems to be a ...
Source: Stem Cell Research - June 4, 2019 Category: Stem Cells Source Type: research

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
Publication date: Available online 30 May 2019Source: Stem Cell ResearchAuthor(s): Jens Schuster, Ambrin Fatima, Franziska Schwarz, Joakim Klar, Loora Laan, Niklas DahlAbstractVon Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene VHL. We generated human iPSC lines from primary dermal fibroblasts of three VHL syndrome patients carrying distinct VHL germ line mutations (c.194C>G, c.194C>T and nt440delTCT, respectively). Characterization of the iPSC lines confirmed expression of pluripotency markers, trilineage differentiation potential and absence of exogenous v...
Source: Stem Cell Research - June 1, 2019 Category: Stem Cells Source Type: research

Generation of a human iPS cell line (CABi003-A) from a patient with age-related macular degeneration carrying the CFH Y402H polymorphism
Publication date: Available online 29 May 2019Source: Stem Cell ResearchAuthor(s): Ana B. Garcia-Delgado, Sofia M. Calado, Lourdes M. Valdes-Sanchez, Adoracion Montero-Sanchez, Beatriz Ponte-Zuñiga, Berta de la Cerda, Shom Shanker Bhattacharya, Francisco J. Diaz-CorralesAbstractAge-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the macula, the central region of the retina. A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical di...
Source: Stem Cell Research - May 30, 2019 Category: Stem Cells Source Type: research

Stem cell passage affects directional migration of stem cells in electrotaxis
Publication date: Available online 30 May 2019Source: Stem Cell ResearchAuthor(s): Seung Hee Hong, Mi Hee Lee, Min-Ah Koo, Gyeung Mi Seon, Ye Jin Park, Dohyun Kim, Jong-Chul ParkAbstractStem cells can differentiate into various body tissues and organs and thus are considered as promising tools for cell therapy and tissue engineering. Early passage stem cells have high differentiation ability compared to late passage stem cells. Thus, it is important to use early passage stem cells in cell therapy. Here, we investigated whether cell migration could be used to compare young and senescent cells. We used ‘electrotaxis&rs...
Source: Stem Cell Research - May 30, 2019 Category: Stem Cells Source Type: research

Hepatocyte-like cells derived from human amniotic epithelial, bone marrow, and adipose stromal cells display enhanced functionality when cultured on decellularized liver substrate
Publication date: Available online 29 May 2019Source: Stem Cell ResearchAuthor(s): Ramon E. Coronado, Maria Somaraki-Cormier, Joo L. Ong, Glenn A. HalffAbstractTransplantation of primary hepatocytes has been used in treatments for various liver pathologies and end-stage liver disease. However, shortage of donor tissue and the inability of hepatocyte proliferation in vitro have lead to alternative methods such as stem cell-derived hepatocyte-like cells (HLCs). Mesenchymal stromal/stem cells, and amniotic epithelial cells were isolated from human bone marrow (BM-MSCs), lipoaspirates (ASCs), and amniotic tissue (AECs) respect...
Source: Stem Cell Research - May 29, 2019 Category: Stem Cells Source Type: research

Chemical screen for epigenetic barriers to single allele activation of Oct4
Publication date: Available online 24 May 2019Source: Stem Cell ResearchAuthor(s): Kathryn M. Headley, Katarzyna M. Kedziora, Aidin Alejo, Elianna Zhi-Xiang Lai, Jeremy E. Purvis, Nathaniel A. HathawayAbstractHere we utilized the chromatin in vivo assay (CiA) mouse platform to directly examine the epigenetic barriers impeding the activation of the CiA:Oct4 allele in mouse embryonic fibroblasts (MEF)s when stimulated with a transcription factor. The CiA:Oct4 allele contains an engineered EGFP reporter replacing one copy of the Oct4 gene, with an upstream Gal4 array in the promoter that allows recruitment of chromatin modify...
Source: Stem Cell Research - May 26, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1
Publication date: Available online 21 May 2019Source: Stem Cell ResearchAuthor(s): Julie Estève, Jean-Marc Blouin, Magalie Lalanne, Lamia Azzi-Martin, Pierre Dubus, Audrey Bidet, Jérôme Harambat, Brigitte Llanas, Isabelle Moranvillier, Aurélie Bedel, François Moreau-Gaudry, Emmanuel RichardAbstractPrimary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of the liver metabolism due to functional deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in overproduction of oxalate which complexes with calcium to form insoluble ca...
Source: Stem Cell Research - May 23, 2019 Category: Stem Cells Source Type: research

Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene
Publication date: Available online 22 May 2019Source: Stem Cell ResearchAuthor(s): Judit Domingo-Prim, Marina Riera, Anniken Burés-Jelstrup, Borja Corcostegui, Esther PomaresAbstractRetinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these iPSCs was performed from skin fibroblasts by the Sendai-virus based approach. Characterizati...
Source: Stem Cell Research - May 23, 2019 Category: Stem Cells Source Type: research

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
Publication date: Available online 22 May 2019Source: Stem Cell ResearchAuthor(s): Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva RichardAbstractA human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and ...
Source: Stem Cell Research - May 23, 2019 Category: Stem Cells Source Type: research

Establishment of CSUASOi001-A, a non-integrated induced pluripotent stem cell line from urine-derived cells of a Chinese patient carrying RS1 gene mutation
Publication date: Available online 17 May 2019Source: Stem Cell ResearchAuthor(s): Xin Yan, Yonglong Guo, Juan Chen, Zekai Cui, Jianing Gu, Yini Wang, Shengru Mao, Chengcheng Ding, Jiansu Chen, Shibo TangAbstractX-linked juvenile retinoschisis (XLRS) is one of the most severely affected genetic causes of irreversible retinal degeneration diseases in young males, especially school-age boys. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese 11-year-old male with clinically diagnosed XLRS. Urine sample was collected with appropriate cooperation, then isolated cells were expanded for subsequent reprogram...
Source: Stem Cell Research - May 19, 2019 Category: Stem Cells Source Type: research

An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene
Publication date: Available online 15 May 2019Source: Stem Cell ResearchAuthor(s): Amanda Baskfield, Rong Li, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei ZhengAbstractNiemann-Pick disease type A (NPA) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for the protein acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 21-fetal-week-old female patient with NPA that has a heterozygous mutation of a p.L302P variant (c.905 T > C) using non-integrating Sendai virus technique. This iPSC line offers...
Source: Stem Cell Research - May 17, 2019 Category: Stem Cells Source Type: research

The evolution of Great Apes has shaped the functional enhancers' landscape in human embryonic stem cells
Publication date: May 2019Source: Stem Cell Research, Volume 37Author(s): Gennadi Glinsky, Tahsin Stefan BarakatAbstractHigh-throughput functional assays of enhancer activity have recently enabled the genome-scale definition of molecular, structural, and biochemical features of these genomic regulatory regions. To infer the evolutionary origin of DNA sequences operating as functional enhancers in human embryonic stem cells (hESC), we examined the patterns of evolutionary conservation and divergence in the genome-wide functional enhancers' landscape of hESC. We show that a prominent majority (up to 94%) of DNA sequences ide...
Source: Stem Cell Research - May 15, 2019 Category: Stem Cells Source Type: research

Normoxia is not favorable for maintaining stemness of human endothelial progenitor cells
Publication date: Available online 14 May 2019Source: Stem Cell ResearchAuthor(s): Yiqiu Lin, Bing Liu, Tongyuan Deng, Jian Zhong, Zhuowei Feng, Qing Zeng, Guozhi Huang, Zhenzhou ChenAbstractThe in vitro expansion of endothelial progenitor cells (EPCs) is necessary for obtaining sufficient amounts of cells for clinical applications. However, EPC expansion is conventionally carried out under non-physiologic oxygen concentrations (normoxia, ~20% O2). We compared the effects of normoxic and hypoxic culture on the stemness of expanded EPCs. Human EPCs were cultured under hypoxia (1% O2) or normoxia (~20% O2), respectively. Cel...
Source: Stem Cell Research - May 15, 2019 Category: Stem Cells Source Type: research

Skeletal-muscle-derived mesenchymal stem/stromal cells from patients with osteoarthritis show superior biological properties compared to bone-derived cells
Publication date: Available online 14 May 2019Source: Stem Cell ResearchAuthor(s): Klemen Čamernik, Anže Mihelič, Rene Mihalič, Darja Marolt Presen, Andrej Janež, Rihard Trebše, Janja Marc, Janja ZupanAbstractMesenchymal stem/stromal cells (MSCs) are being exploited for patient-derived stem-cell therapies. As the biological properties of MSCs derived from skeletal muscle of osteoarthritis patients are poorly understood, the aim of this study was to compare muscle MSCs with well-recognized bone and bone marrow-derived MSCs from these patients.Paired samples of skeletal muscle and trabecular bone tissue were obta...
Source: Stem Cell Research - May 15, 2019 Category: Stem Cells Source Type: research

Adipose-derived stromal cell secretome reduces TNFα-induced hypertrophy and catabolic markers in primary human articular chondrocytes
Publication date: Available online 15 May 2019Source: Stem Cell ResearchAuthor(s): Stefania Niada, Chiara Giannasi, Marta Gomarasca, Deborah Stanco, Sara Casati, Anna Teresa BriniAbstractRecent clinical trials show the efficacy of Adipose-derived Stromal Cells (ASCs) in contrasting the osteoarthritis scenario. Since it is quite accepted that ASCs act predominantly through a paracrine mechanism, their secretome may represent a valid therapeutic substitute. The aim of this study was to investigate the effects of ASC conditioned medium (ASC-CM) on TNFα-stimulated human primary articular chondrocytes (CHs).CHs were treat...
Source: Stem Cell Research - May 15, 2019 Category: Stem Cells Source Type: research

Induced pluripotent stem cell line heterozygous for p.R2447X mutation in filaggrin: KCLi002-A
Publication date: Available online 13 May 2019Source: Stem Cell ResearchAuthor(s): Nikola Kolundzic, Preeti Khurana, Liani Devito, Matthew Donne, Carl Hobbs, Jakob Jeriha, Xuan Fei Colin Cornelius Wong, John A.E. Common, Ellen Birgitte Lane, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Theodora M. Mauro, Dusko IlicAbstractWe have generated an induced pluripotent stem cell (iPSC) line KCLi002-A (iOP107) from a female donor, heterozygous for the loss-of-function mutation p.R2447X in the filaggrin gene (FLG). Epidermal keratinocytes were reprogrammed using non-integrating Sendai virus vectors. The entire process of deriv...
Source: Stem Cell Research - May 14, 2019 Category: Stem Cells Source Type: research

Generation of refractory schizophrenia patient-derived induced pluripotent stem cell line UJSi001-A
Publication date: Available online 9 May 2019Source: Stem Cell ResearchAuthor(s): Jing Sun, Xiaoya Zhang, Qijie Cong, Cong Wang, Dong Chen, Yincheng Wang, Xiaowen Wang, Zhenghui Yi, Shengying QinAbstractSchizophrenia is considered one of the most serious mental disorders nowadays. Approximately 30–60% of people with schizophrenia do not present adequate response to drug treatment and persist with symptoms of the disease; they are known as refractory schizophrenic people. We generated induced pluripotent stem cells (iPSCs) from a refractory schizophrenia patient by electroporation of peripheral blood mononuclear cells...
Source: Stem Cell Research - May 11, 2019 Category: Stem Cells Source Type: research

Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene
Publication date: Available online 9 May 2019Source: Stem Cell ResearchAuthor(s): Xinyue Bai, Xian-Jie Yang, Ling ChenAbstractBest's disease (BD) is an inherited retinal degenerative disease caused by mutations in BEST1 gene. A human induced pluripotent stem cell (iPSC) line has been generated with integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a BD patient carrying c.888C > A mutation in BEST1 gene. This cell line may serve as a model for the study of pathogenesis of BD. (Source: Stem Cell Research)
Source: Stem Cell Research - May 11, 2019 Category: Stem Cells Source Type: research

Metabolic flux analyses to assess the differentiation of adult cardiac progenitors after fatty acid supplementation
Publication date: Available online 8 May 2019Source: Stem Cell ResearchAuthor(s): Sophia Malandraki-Miller, Colleen A. Lopez, Rita Alonaizan, Ujang Purnama, Filippo Perbellini, Kathy Pakzad, Carolyn A. CarrAbstractMyocardial infarction is the most prevalent of cardiovascular diseases and pharmacological interventions do not lead to restoration of the lost cardiomyocytes. Despite extensive stem cell therapy studies, clinical trials using cardiac progenitor cells have shown moderate results. Furthermore, differentiation of endogenous progenitors to mature cardiomyocytes is rarely reported.A metabolic switch from glucose to f...
Source: Stem Cell Research - May 9, 2019 Category: Stem Cells Source Type: research

In vivo fate of bone marrow mesenchymal stem cells implanted into rat pulpotomized molars
In this study, we investigated the in vivo fate of LacZ-labeled BM-MSCs in our coronal pulp regeneration model. BM-MSCs were nucleofected with pVectOZ-LacZ plasmid encoding β-galactosidase 1 day before implantation, and the LacZ-transfected BM-MSCs were implanted into the pulpotomized pulp chamber with biodegradable preformed scaffold-hydrogel constructs. Empty vector was used as a control. After 3 and 14 days, the molars were retrieved and subjected to β-galactosidase staining. At 3 days, β-galactosidase-expressing cells with a round profile were located mainly around the scaffold. At 14 days, when ...
Source: Stem Cell Research - May 9, 2019 Category: Stem Cells Source Type: research

Generation of three control iPS cell lines for sickle cell disease studies by reprogramming erythroblasts from individuals without hemoglobinopathies
Publication date: Available online 4 May 2019Source: Stem Cell ResearchAuthor(s): Bruno Diaz Paredes, Gabriele Louise Soares Martins, Carine Machado Azevedo, Gabriela Louise de Almeida Sampaio, Carolina Kymie Vasques Nonaka, Katia Nunes da Silva, Milena Botelho Pereira Soares, Ricardo Ribeiro dos Santos, Bruno Solano de Freitas SouzaAbstractSickle cell disease (SCD) is one of the most prevalent and severe monogenetic disorders. Previously, we generated iPS cell lines from SCD patients. Here, we generated iPS cell lines from three age-, ethnicity- and gender-matched healthy individuals as control cell lines. Cell reprogramm...
Source: Stem Cell Research - May 5, 2019 Category: Stem Cells Source Type: research

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling
Publication date: Available online 4 May 2019Source: Stem Cell ResearchAuthor(s): Arantxa Bolinches-Amorós, Marian León, Verónica del Buey Furió, Gemma Marfany, Roser Gonzàlez-Duarte, Slaven Erceg, Dunja LukovicAbstractDermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated human induced Pluripotent Stem Cell (hiPSC) lines RP3-FiPS4F1 and Ctrl3-FiPS4F1, were free of genomically integrated r...
Source: Stem Cell Research - May 5, 2019 Category: Stem Cells Source Type: research

The evolution of Great Apes has shaped the functional enhancer landscape in human embryonic stem cells
Publication date: Available online 3 May 2019Source: Stem Cell ResearchAuthor(s): Gennadi Glinsky, Tahsin Stefan BarakatAbstractHigh-throughput functional assays of enhancer activity have recently enabled the genome-scale definition of molecular, structural, and biochemical features of these genomic regulatory regions. To infer the evolutionary origin of DNA sequences operating as functional enhancers in human embryonic stem cells (hESC), we examined the patterns of evolutionary conservation and divergence in the genome-wide functional enhancers' landscape of hESC. We show that a prominent majority (up to 94%) of DNA seque...
Source: Stem Cell Research - May 4, 2019 Category: Stem Cells Source Type: research

The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line
Publication date: Available online 4 May 2019Source: Stem Cell ResearchAuthor(s): Sara Howden, Hani Hosseini Far, Ali Motazedian, Andrew G. Elefanty, Edouard G. Stanley, Shireen R. Lamandé, John F. BatemanAbstractTo develop a disease model for the human ‘brittle bone’ disease, osteogenesis imperfecta, we used a simultaneous reprogramming and CRISPR-Cas9 genome editing method to produce an iPSC line with the heterozygous patient mutation (COL1A1 c. 3936 G>T) along with an isogenic gene-corrected control iPSC line. Both IPSC lines had a normal karyotype, expressed pluripotency markers and differentiated...
Source: Stem Cell Research - May 4, 2019 Category: Stem Cells Source Type: research

Generation of four patient-specific pluripotent induced stem cell lines from two Brazilian patients with amyotrophic lateral sclerosis and two healthy subjects
Publication date: Available online 4 May 2019Source: Stem Cell ResearchAuthor(s): Fernanda Gubert, Juliana F. Vasques, Tatiane D. Cozendey, Pablo Domizi, María Fernanda Toledo, Tais H. Kasai-Brunswick, Marli P.S. Loureiro, José M.B. Lima, Claudio H. Gress, Giselda M.K. Cabello, Pedro H. Cabello, Tamara Borgonovo, Isadora M. Vaz, Rosane Silva, Rosalia Mendez-OteroAbstractInduced pluripotent stem cell (iPSC) lines were generated from erythroblasts of two patients with amyotrophic lateral sclerosis (ALS) and two healthy individuals. One familial and one sporadic ALS patients were used, both with genetic alterati...
Source: Stem Cell Research - May 4, 2019 Category: Stem Cells Source Type: research

Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2
Publication date: Available online 25 April 2019Source: Stem Cell ResearchAuthor(s): Samantha B. Ross, Mira Holliday, Seakcheng Lim, Christopher SemsarianAbstractCatecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmia syndrome characterized by adrenaline induced ventricular tachycardia. The primary genetic aetiologies underlying CPVT are either autosomal dominant or autosomal recessive inheritance, resulting from heterozygous mutations in cardiac ryanodine receptor (RYR2) and homozygous mutations in cardiac calsequestrin-2 (CASQ2), respectively. Recently, a large family with autosomal dominant CPVT du...
Source: Stem Cell Research - April 25, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation
We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm. (Source: Stem Cell Research)
Source: Stem Cell Research - April 25, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying hemizygous 208insC mutations in the IDS gene
Publication date: Available online 25 April 2019Source: Stem Cell ResearchAuthor(s): Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei ZhengAbstractMucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S). This is a multisystem disorder with significant variation in symptoms. Here, we document a human induced pluripotent stem cell (iPSC) line generated from dermal fibroblasts of a patient with Hunter syndrome containing a hemizygous mutatio...
Source: Stem Cell Research - April 25, 2019 Category: Stem Cells Source Type: research

Fibronectin-conjugated thermoresponsive nanobridges generate three dimensional human pluripotent stem cell cultures for differentiation towards the neural lineages
Publication date: Available online 23 April 2019Source: Stem Cell ResearchAuthor(s): Linda Harkness, Xiaoli Chen, Zhongfan Jia, Anthony M. Davies, Michael Monteiro, Peter Gray, Martin PeraAbstractProduction of 3-dimensional neural progenitor cultures from human pluripotent stem cells offers the potential to generate large numbers of cells. We utilised our nanobridge system to generate 3D hPSC aggregates for differentiation towards the neural lineage, and investigate the ability to passage aggregates while maintaining cells at a stem/progenitor stage. Over 38 days, aggregate cultures exhibited upregulation and maintenance...
Source: Stem Cell Research - April 24, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells (IBMSi011-A) from a patient with Parkinson's disease carrying LRRK2 p.I1371V mutation
Publication date: Available online 22 April 2019Source: Stem Cell ResearchAuthor(s): Han-I Lin, Yu-Che Cheng, Hui-Wen Ko, Cheng-Hao Wen, Huai-En Lu, Ching-Ying Huang, Patrick C.H. Hsieh, Chin-Hsien LinAbstractLeucine rich repeat kinase 2 (LRRK2) is the causative gene for autosomal-dominant familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with LRRK2 c.4111A > G (p.I1371V) mutation by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency c...
Source: Stem Cell Research - April 23, 2019 Category: Stem Cells Source Type: research

GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation
Publication date: Available online 22 April 2019Source: Stem Cell ResearchAuthor(s): Rosa Montes, Pilar Mollinedo, Sonia Perales, Domingo Gonzalez-Lamuño, Veronica Ramos-Mejía, Jose L. Fernandez-Luna, Pedro J. RealAbstractADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A). Peripheral blood mononuclear cells were reprogrammed using a non-transmissible form of Sendai viruses expressing the four Yamanaka factors (Oct3/4, SOX2, KLF4 and c-M...
Source: Stem Cell Research - April 23, 2019 Category: Stem Cells Source Type: research

Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing
Publication date: Available online 23 April 2019Source: Stem Cell ResearchAuthor(s): HaniHosseini Far, Yudha Nur Patria, Ali Motazedian, Andrew G. Elefanty, Edouard G. Stanley, Shireen R. Lamande, John F. BatemanAbstractTo develop a disease model for the human ‘brittle bone’ disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established control iPSC line. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. This iPSC line and th...
Source: Stem Cell Research - April 23, 2019 Category: Stem Cells Source Type: research

Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation
In this study we reprogrammed fibroblasts from a 30-year-old male patient with DDE carrying a point mutation (c.890G > A, p.Arg297Gln) in KCNA2 to induced pluripotent stem cells. Pluripotency state of the cells was verified by the capability to differentiate into all three germ layers and the expression of several pluripotency markers on RNA and protein levels. (Source: Stem Cell Research)
Source: Stem Cell Research - April 21, 2019 Category: Stem Cells Source Type: research

The role of nuclear receptors in the differentiation of oligodendrocyte precursor cells derived from fetal and adult neural stem cells
Publication date: Available online 17 April 2019Source: Stem Cell ResearchAuthor(s): Vito Antonio Baldassarro, Wojciech Krężel, Mercedes Fernández, Brigitte Schuhbaur, Luciana Giardino, Laura CalzàAbstractOligodendrocyte precursor cells (OPCs) differentiation from multipotent neural stem cells (NSCs) into mature oligodendrocytes is driven by thyroid hormone and mediated by thyroid hormone receptors (TRs). We show that several nuclear receptors display strong changes in expression levels between fetal and adult NSCs, with an overexpression of TRβ and a lower expression of RXRγ in adult. Such chang...
Source: Stem Cell Research - April 18, 2019 Category: Stem Cells Source Type: research

Analysis of mesenchymal cells (MSCs) from bone marrow, synovial fluid and mesenteric, neck and tail adipose tissues sources from equines
This study might serve to provide the knowledge to select a valuable harvesting source of MSCs. Bone marrow, synovial and adipose (mesenteric, neck and tail fat) tissues were collected from adult equines.Cell surface markers expression (CD11α/CD18, CD45, CD79α, CD90, CD105 and MHC II) and in vitro differentiation assays were made. In vitro cell migration, cell growth and wound healing capacity tests helped to study their behavior and properties. MSCs phenotype was positively confirmed by the cell surfaces markers and a tri-lineage differentiation profile. Bone marrow cells showed the highest migration capacity,...
Source: Stem Cell Research - April 18, 2019 Category: Stem Cells Source Type: research

Characterization of new variant human ES line VH9 hESC (INSTEMe001-a): a tool for human stem cell and cancer research
Publication date: Available online 18 April 2019Source: Stem Cell ResearchAuthor(s): Radhika Rao Arasala, Manjunath Jayaram, Jagamohan Chattai, Thangaraj Kumarasamy, Ramkumar Sambasivan, Shravanti RampalliAbstractHuman pluripotent stem cells (hPSCs) acquire changes at the genomic level upon proliferation and differentiation (Peterson and Loring, 2014). Studies from International Stem Cell Initiative and independent laboratories identified a copy number variant (CNV) in hES cell lines displaying a normal karyotype, which provided a selective advantage to hES cells in culture (Lefort et al., 2009). In our laboratory we have ...
Source: Stem Cell Research - April 18, 2019 Category: Stem Cells Source Type: research

Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's Disease (fAD) patient carrying the E280A mutation in the PSEN1 gene
Publication date: Available online 15 April 2019Source: Stem Cell ResearchAuthor(s): Sara Vallejo-Diez, Aarne Fleischer, Jose María Martín-Fernández, Almudena Sánchez-Gilabert, Mónica Castresana, David Aguillón, Andrés Villegas, Claudio A. Mastronardi, Lady G. Espinosa, Mauricio Arcos-Burgos, Ángel del Pozo, Enara Herrán, Eusebio Gainza, Mario Isaza-Ruget, Francisco Lopera, Daniel BachillerAbstractThe mutation E280A in PSEN1 (presenilin-1) is the most common cause of early-onset familial Alzheimer's Disease (fAD). It presents autosomal dominant inheritance and ...
Source: Stem Cell Research - April 15, 2019 Category: Stem Cells Source Type: research

Generation of an OCT3/4 reporter cynomolgus monkey ES cell line using CRISPR/Cas9
Publication date: Available online 15 April 2019Source: Stem Cell ResearchAuthor(s): Kenichi Kobayashi, Tomoyuki Tsukiyama, Masataka Nakaya, Susumu Kageyama, Keiji Tomita, Ryosuke Murai, Tetsuya Yoshida, Mitsuhiro Narita, Akihiro Kawauchi, Masatsugu EmaAbstractCynomolgus monkey ES (Cyn ES) cells can be generated in a similar manner as human ES cells. However, Cyn ES cells are difficult to maintain in an undifferentiated state by untrained researchers. For easier culture, we generated an OCT3/4-P2A tdTomato IRES ZeocinR Cyn ES cell line using CRISPR/Cas9 genome editing technology. The stop codon of the endogenous OCT3/4 loc...
Source: Stem Cell Research - April 15, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene
Publication date: Available online 15 April 2019Source: Stem Cell ResearchAuthor(s): L. Auboyer, C. Monzo, D. Wallon, A. Rovelet-Lecrux, A. Gabelle, I. Gazagne, V. Cacheux, S. Lehmann, C. CrozetAbstractInduced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 58 year-old woman suffering from Alzheimer's disease and carrying a D694N mutation on Amyloid precursor protein (APP). Fibroblasts were reprogrammed into iPSC using the integration-free Sendai Virus which allows the expression of the Yamanaka factors. Verification of their pluripotency was achieved by demonstrating the expression of ...
Source: Stem Cell Research - April 15, 2019 Category: Stem Cells Source Type: research

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation
Publication date: Available online 13 April 2019Source: Stem Cell ResearchAuthor(s): Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano GnecchiAbstractWe generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a woman carrier of the heterozygous mutation c.568C > T p.R190W on the KCNQ1 gene. hiPSCs, obtained using four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated i...
Source: Stem Cell Research - April 15, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
Publication date: Available online 12 April 2019Source: Stem Cell ResearchAuthor(s): Amanda Baskfield, Rong Li, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei ZhengAbstractNiemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that has a heterozygous mutation of a p.L43_A44delLA of SMPD1 using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the di...
Source: Stem Cell Research - April 13, 2019 Category: Stem Cells Source Type: research

A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying R854X mutation in the GAA gene
Publication date: Available online 11 April 2019Source: Stem Cell ResearchAuthor(s): Yu-Shan Cheng, Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei ZhengAbstractPompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin dermal fibroblasts of a Pompe patient with homozygosity for a c.2560C > T (p.R854X) mutation in exon 18 of the GAA gene. This human iPSC li...
Source: Stem Cell Research - April 12, 2019 Category: Stem Cells Source Type: research

Evaluation of commonly used ectoderm markers in iPSC trilineage differentiation
Publication date: Available online 10 April 2019Source: Stem Cell ResearchAuthor(s): Yu-Lin Kuang, Antonio Munoz, Gilbert Nalula, Katherine E. Santostefano, Valentina Sanghez, Gabriela Sanchez, Naohiro Terada, Aras N. Mattis, Michelina Iacovino, Carlos Iribarren, Ronald M. Krauss, Marisa W. MedinaAbstractPatient-derived induced pluripotent stem cells (iPSCs) have become a promising resource for exploring genetics of complex diseases, discovering new drugs, and advancing regenerative medicine. Increasingly, laboratories are creating their own banks of iPSCs derived from diverse donors. However, there are not yet standardize...
Source: Stem Cell Research - April 10, 2019 Category: Stem Cells Source Type: research

Cyclic tensile stress promotes osteogenic differentiation of adipose stem cells via ERK and p38 pathways
Publication date: Available online 8 April 2019Source: Stem Cell ResearchAuthor(s): Liang Zhang, Yingkai Wang, Nan Zhou, Yuzhang Feng, Xingmei YangAbstractThe present study aimed to elucidate whether extracellular signal-regulated kinases 1/2 (ERK1/2) and p38 mitogen-activated protein kinases pathways participate in the transduction of mechanical stretch exerted on adipose stem cells (ASCs) into intracellular osteogenic signals, and if so whether both pathways have time-dependent feature. Rat ASCs were cultured in osteogenic medium for 72 h and assigned into three sets, namely ERK1/2 inhibitor treated set, p38 inhibitor ...
Source: Stem Cell Research - April 9, 2019 Category: Stem Cells Source Type: research

Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene
Publication date: Available online 5 April 2019Source: Stem Cell ResearchAuthor(s): Yu-Che Cheng, Han-I Lin, Shih-Han Syu, Huai-En Lu, Ching-Ying Huang, Chin-Hsien Lin, Patrick C.H. HsiehAbstractA recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with a homozygous PLA2G6 c.991G > T (p.D331Y) mutation by using the Sendai-virus delive...
Source: Stem Cell Research - April 6, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line-NTUHi001-A from a premature ovarian failure patient with Turner's syndrome mosaicism
Publication date: Available online 2 April 2019Source: Stem Cell ResearchAuthor(s): Chen-Yu Lu, Yu-An Chen, Shih-Han Syu, Huai-En Lu, Hong-Nerng Ho, Hsin-Fu ChenAbstractTurner's syndrome (TS) is one of the main causes of premature ovarian failure (POF). However, the mechanisms underlying POF are difficult to study due to the lack of suitable disease models. Herein, we have generated a human induced pluripotent stem cell (hiPSC) line derived from the peripheral blood mononuclear cells of a female patient with Turner's syndrome mosaicism via integration-free Sendai-virus system. The hiPSCs were confirmed with a 45, X karyoty...
Source: Stem Cell Research - April 3, 2019 Category: Stem Cells Source Type: research

L-WRN conditioned medium for gastrointestinal epithelial stem cell culture shows replicable batch-to-batch activity levels across multiple research teams
Publication date: Available online 27 March 2019Source: Stem Cell ResearchAuthor(s): Kelli L. VanDussen, Naomi M. Sonnek, Thaddeus S. StappenbeckAbstractConditioned medium (CM) derived from engineered cells often facilitates the cost-effective culture of a variety of stem cells. Growing emphasis on the importance of rigor and reproducibility in lab-based science requires development of best practices approaches, including quality control procedures for the assessment of CM batches to ensure reliable interpretation and reproducibility. Here, we tested activity level variations of L-WRN CM, which is produced from an L cell l...
Source: Stem Cell Research - March 28, 2019 Category: Stem Cells Source Type: research

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation
Publication date: Available online 27 March 2019Source: Stem Cell ResearchAuthor(s): Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano GnecchiAbstractWe generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a male carrier of the heterozygous mutation c.1781 G > A p.R594Q on the KCNQ1 gene. hiPSCs, generated using four retroviruses each encoding for OCT4, SOX2, KLF4 and cMYC, display pluripotent stem cell characteristics, and can be differentiated into spontaneou...
Source: Stem Cell Research - March 28, 2019 Category: Stem Cells Source Type: research