Editorial Board
Publication date: October 2018Source: Stem Cell Research, Volume 32Author(s): (Source: Stem Cell Research)
Source: Stem Cell Research - October 16, 2018 Category: Stem Cells Source Type: research

Generation of two human isogenic iPSC lines from fetal dermal fibroblasts
Publication date: Available online 12 October 2018Source: Stem Cell ResearchAuthor(s): Rashmi Tandon, Björn Brändl, Natalya Baryshnikova, Alexandro Landshammer, Laura Steenpaß, Oliver Keminer, Ole Pless, Franz-Josef MüllerAbstractTwo isogenic hiPSC lines, ZIPi013-B and ZIPi013-E, were generated by reprogramming fetal dermal fibroblasts with episomal vectors. Previously, the same fetal fibroblasts were reprogrammed multiple times in a study comparing other reprogramming methods. As a consequence, the genomes have been sequenced multiple times. Both new cell lines offer the opportunity to study basic ste...
Source: Stem Cell Research - October 13, 2018 Category: Stem Cells Source Type: research

Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5
In this study, we report the human induced pluripotent stem cell line (iPSC) HSAN5-T203 M-iPSC, generated from human dermal fibroblasts (HDF) of a woman carrying a heterozygous c.608C > T mutation in the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5 (HSAN5). HDF were reprogrammed using transient expression of key transcription factors for pluripotency and immune evasion via transfection of synthetic mRNA and miRNA. HSAN5-T203 M-iPSC retained the disease-associated genotype c.608C > T, while maintaining a normal karyotype, showed robust and abundant...
Source: Stem Cell Research - October 13, 2018 Category: Stem Cells Source Type: research

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene
Publication date: Available online 12 October 2018Source: Stem Cell ResearchAuthor(s): Candela Machuca Arellano, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amorós, Ana Artero Castro, Carmen Espinos, Marian Leon Rodriguez, Pavla Jendelova, Slaven ErcegAbstractThe human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry a...
Source: Stem Cell Research - October 12, 2018 Category: Stem Cells Source Type: research

Generation of four Isl1 reporter iPSC lines from cardiac and tail-tip fibroblasts derived from Ai6IslCre mouse
Publication date: Available online 11 October 2018Source: Stem Cell ResearchAuthor(s): Javier Linares, Leyre López-Muneta, Estibaliz Arellano-Viera, Purificación Ripalda-Cemboráin, Elena Iglesias, Gloria Abizanda, Xabier L. Aranguren, Felipe Prósper, Xonia Carvajal-VergaraAbstractIslet-1 (Isl1) is a transcription factor essential for life expressed in specific cells with different developmental origins. We have generated iPSC lines from fibroblasts of the transgenic Ai6 x Isl1-Cre (Ai6IslCre) mouse. Here we describe the complete characterization of four iPSC lines: ATCi-Ai6IslCre10, ATCi-Ai6IslC...
Source: Stem Cell Research - October 11, 2018 Category: Stem Cells Source Type: research

Derivation and characterization of putative craniofacial mesenchymal progenitor cells from human induced pluripotent stem cells
Publication date: Available online 10 October 2018Source: Stem Cell ResearchAuthor(s): Mohamed Jamal, Sara L. Lewandowski, Matthew L. Lawton, George T.-J. Huang, Laertis IkonomouAbstractThe introduction and widespread adoption of induced pluripotent stem cell (iPSC) technology has opened new avenues for craniofacial regenerative medicine. Neural crest cells (NCCs) are the precursor population to many craniofacial structures, including dental and periodontal structures, and iPSC-derived NCCs may, in the near future, offer an unlimited supply of patient-specific cells for craniofacial repair interventions.Here, we used an es...
Source: Stem Cell Research - October 10, 2018 Category: Stem Cells Source Type: research

Establishment of TUSMi005-A, an induced pluripotent stem cell (iPSC) line from a 32-year old Chinese Han patient with Bipolar Disorder (BD)
Publication date: Available online 6 October 2018Source: Stem Cell ResearchAuthor(s): Ying Wang, Qiang Fen, Hongxiang Yu, Haixia Qiu, Xiquan Ma, Ying Lei, Jian ZhaoAbstractA 32-year old Bipolar Disorder (BD) male patient donated his Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system used to reprogram PBMCs with the human OKSM transcription factors. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry for pluripotency markers and by the ability of the iPSCs to differentiate spontaneously into 3 germ layers in vitro. In addition, the iPSC line displayed a normal kar...
Source: Stem Cell Research - October 7, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells (iPSCs) from human foreskin fibroblasts
Publication date: Available online 6 October 2018Source: Stem Cell ResearchAuthor(s): Friedrich Erdlenbruch, Jürgen Rohwedel, Philipp Ralfs, Antonia Thomitzek, Jan Kramer, Figen CakirogluAbstractThe human iPS cell line VUZUZLi001-A (hVH-1) was generated from human foreskin fibroblasts to be used as a control line. Reprogramming was performed by retroviral transduction of reprogramming factors OCT4, SOX2, KLF4 and c-MYC.Resource tableUnique stem cell line identifierVUZUZLi001-AAlternative name(s) of stem cell linehVH-1InstitutionInstitute of Virology and Cell Biology, University of LübeckContact information of dis...
Source: Stem Cell Research - October 7, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation
Publication date: Available online 6 October 2018Source: Stem Cell ResearchAuthor(s): Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Christopher SemsarianAbstractHypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp. Induced pluripotent stem cells express pluripotency markers, demonstra...
Source: Stem Cell Research - October 7, 2018 Category: Stem Cells Source Type: research

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation
Publication date: Available online 6 October 2018Source: Stem Cell ResearchAuthor(s): Daniele Pollini, Rosa Loffredo, Marina Cardano, Luciano Conti, Serena Lattante, Angelantonio Notarangelo, Mario Sabatelli, Alessandro ProvenzaniAbstractFibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episomal plasmids. We generated the Q66K#44DRM induced pluripotent stem cell (iPSC) line that showed regular karyotype, expressed pluripotency-associated markers and were able to properly different...
Source: Stem Cell Research - October 7, 2018 Category: Stem Cells Source Type: research

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1
Publication date: Available online 5 October 2018Source: Stem Cell ResearchAuthor(s): Dunja Lukovic, Ana Artero Castro, Marian León, Verónica del Buey Furió, Marta Cortón, Carmen Ayuso, Slaven ErcegAbstractThe human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated by Sendai virus reprogramming. The generated hiPSC line was free of Sendai virus genes, had stable karyotype, carried the homozygous m...
Source: Stem Cell Research - October 6, 2018 Category: Stem Cells Source Type: research

Pluripotent stem cell-derived interneuron progenitors mature and restore memory deficits but do not suppress seizures in the epileptic mouse brain
Publication date: Available online 5 October 2018Source: Stem Cell ResearchAuthor(s): Nickesha C. Anderson, Meghan A. Van Zandt, Swechhya Shrestha, Daniel B. Lawrence, Jyoti Gupta, Christopher Y. Chen, Felicia A. Harrsch, Trinithas Boyi, Carolyn E. Dundes, Gloster Aaron, Janice R. Naegele, Laura GrabelAbstractGABAergic interneuron dysfunction has been implicated in temporal lobe epilepsy (TLE), autism, and schizophrenia. Inhibitory interneuron progenitors transplanted into the hippocampus of rodents with TLE provide varying degrees of seizure suppression. We investigated whether human embryonic stem cell (hESC)-derived int...
Source: Stem Cell Research - October 6, 2018 Category: Stem Cells Source Type: research

Controlled release of dextrin-conjugated growth factors to support growth and differentiation of neural stem cells
This study investigated the ability of dextrin (~74,000 g/mol; 27.8 mol% succinoylation) conjugated to epidermal growth factor (EGF) and basic fibroblast growth factor (bFGF; or FGF-2) (3.9 and 6.7% w/w protein loading, respectively) to support the expansion and differentiation of stem cells in vitro via sustained, controllable growth factor release. Supplementation of mouse neural stem cells (mNSCs) with dextrin-growth factor conjugates led to greater and prolonged proliferation compared to unbound EGF/bFGF controls, with no detectable apoptosis after 7 days of treatment. Immunocytochemical detection of neural precu...
Source: Stem Cell Research - October 6, 2018 Category: Stem Cells Source Type: research

Quantitative subcellular proteomics using SILAC reveals enhanced metabolic buffering in the pluripotent ground state
We describe a full SILAC workflow and quality controls for proteomic comparison of 2i and serum ESCs, allowing subcellular proteomics of the cytoplasm, nucleoplasm and chromatin. The obtained quantitative information revealed increased levels of naïve pluripotency factors on the chromatin of 2i ESCs. Surprisingly, the cytoplasmic proteome suggests that 2i and serum ESCs utilize distinct metabolic programs, which include upregulation of free radical buffering by the glutathione pathway in 2i ESCs. Through induction of intracellular radicals, we show that the altered metabolic environment renders 2i ESCs less sensitive ...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect
Publication date: Available online 24 September 2018Source: Stem Cell ResearchAuthor(s): Anika Neureiter, Björn Brändl, Michaela Hiber, Rashmi Tandon, Franz-Josef Müller, Laura SteenpassAbstractAngelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of the brain, expressed exclusively from maternal chromosome 15. The generated iPSC line was derived from ...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of integration-free iPS cell lines from three sickle cell disease patients from the state of Bahia, Brazil
In this study, we generated induced pluripotent stem cell (iPSC) lines from three homozygous SCD patients from the state of Bahia, Brazil, where SCD is highly prevalent. Peripheral blood mononuclear cells were collected and erythroblasts were expanded for cell reprogramming with the use of non-integrative episomal vectors. The generated iPSC lines expressed high levels of pluripotency markers, presented a normal karyotype and were able to differentiate into the three germ layers in embryoid body spontaneous differentiation assays. Moreover, the expression of the episomal vectors was lost in all iPSC lines after 15 passages...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of heterozygous and homozygous hESC H9 sublines carrying inactivating mutations in RB1
Publication date: Available online 26 September 2018Source: Stem Cell ResearchAuthor(s): Leonie Schipper, Deniz Kanber, Laura SteenpassAbstractInactivation of the tumor suppressor gene RB1 is causal for development of retinoblastoma, a tumor of the neural retina arising in children under the age of five. In addition, secondary RB1 mutations are found in many other tumor types. To investigate retinoblastoma formation in vitro, stem cells with inactivated RB1 can be differentiated into neural retina. To enable such studies, two sublines of hESC line H9 carrying mutations in RB1 exon 3 in heterozygous or homozygous state were...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)
Publication date: Available online 28 September 2018Source: Stem Cell ResearchAuthor(s): Ahmed Engi, Sansac Caroline, Fieldes Mathieu, Bergougnoux Anne, Bourguignon Chloé, Mianne Joffrey, Arnould Cécile, Vachier Isabelle, Assou Said, Bourdin Arnaud, De Vos JohnAbstractPrimary Ciliary Dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting motile cilia structure and function leading to lung disease. We generated induced pluripotent stem cells (iPSCs) from dermal fibroblasts of a female PCD patient carrying disease-causing variants in the CCDC40 gene. Reprogramming was performed with the human OSKM ...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers
Publication date: Available online 1 October 2018Source: Stem Cell ResearchAuthor(s): Hauke Baumann, Magdalena Jahn, Alexander Muenchau, Michaela Trilck-Winkler, Katja Lohmann, Philip SeiblerAbstractMutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6). Here, we describe the generation of eight human induced pluripotent stem cell (iPSC) lines of manifesting and non-manifesting carriers of the THAP1 mutations p.Lys158Asnfs*23 or p.Arg13His (each 4 lines). Dermal fibroblasts were reprogrammed using non-integrating Sendai virus. The iPSC...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of CSi001-A, a transgene-free, induced pluripotent stem cell line derived from a Parkinson Disease (PD) patient
Publication date: Available online 1 October 2018Source: Stem Cell ResearchAuthor(s): Zongbo Zhao, Sunping Ji, Zhige Shi, Hui LiuAbstractPeripheral blood mononuclear cells (PBMC) were collected from a 70-year old Parkinson Disease patient. The PBMCs were reprogrammed with the human OKSM transcription factors using the non-integrating episomal vector system. The transgene-free iPSC showed pluripotency verified by immunocytochemistry for pluripotency markers and differentiated directly toward the 3 germ layers in vitro. Furthermore, the iPSC line showed normal karyotype. (Source: Stem Cell Research)
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Rapid and efficient differentiation of functional motor neurons from human iPSC for neural injury modelling
In this study, we present a simple, rapid protocol for differentiation of human iPSCs into functional spinal (lower) MNs, involving only adherent culture and use of small molecules for directed differentiation, with the ultimate aim of rapid production of electrophysiologically functional cells for short-term neural injury experiments. We show successful differentiation in two unrelated iPSC lines, by quantifying neural-specific marker expression, and by evaluating cell functionality at different maturation stages by calcium imaging and patch clamping. Differentiated neurons were shown to be electrophysiologically altered ...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
Publication date: Available online 2 October 2018Source: Stem Cell ResearchAuthor(s): Brittany E. Jewell, Mo Liu, Linchao Lu, Ruoji Zhou, Jian Tu, Dandan Zhu, Zijun Huo, An Xu, Donghui Wang, Helen Mata, Weidong Jin, Weiya Xia, Pulivarthi H. Rao, Ruiying Zhao, Mien-Chie Hung, Lisa L. Wang, Dung-Fang LeeAbstractThe DNA helicase RECQL4 is known for its roles in DNA replication and repair. RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma. Here we reprogrammed fibroblasts with a heterozygous RECQL4 mutation (c.18...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of a CLTA reporter human induced pluripotent stem cell line, CRMi001-A-1, using the CRISPR/Cas9 system to monitor endogenous clathrin trafficking
Publication date: Available online 3 October 2018Source: Stem Cell ResearchAuthor(s): Ruthellen H. Anderson, Jason G. Kerkvliet, Jaelin J. Otta, Alan D. Ross, Patricia C. Leiferman, Adam D. Hoppe, Kevin R. FrancisAbstractThe most highly studied endocytic pathway, clathrin-dependent endocytosis, mediates a wide range of fundamental processes including nutrient internalization, receptor recycling, and signal transduction. In order to model tissue specific and developmental aspects of this process, CRISPR/Cas9 genomic editing was utilized to fluorescently label the C-terminus of clathrin light chain A (CLTA) within the phenot...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation
Publication date: Available online 3 October 2018Source: Stem Cell ResearchAuthor(s): Yen-Hui Chan, Yen-Fu Cheng, You-Tzung Chen, Cheng-Yen Huang, Chin-Hsien Lin, Chin-Ju Hu, Ying-Chang Lu, Chen-Chi Wu, Chuan-Jen HsuAbstractRecessive mutations in the GJB2 gene are the most common genetic cause of hearing loss in humans. By using the Sendai-virus delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with the p.V37I (c.109G > A) mutation, a GJB2 mutation highly prevalent in the Asian population. The resulting iPSCs had a normal karyotype. T...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

SOX4 inhibits oligodendrocyte differentiation of embryonic neural stem cells in vitro by inducing Hes5 expression
Publication date: Available online 4 October 2018Source: Stem Cell ResearchAuthor(s): Luca Braccioli, Stephin J. Vervoort, Gianmarco Puma, Cora H. Nijboer, Paul J. CofferAbstractSOX4 has been shown to promote neuronal differentiation both in the adult and embryonic neural progenitors. Ectopic SOX4 expression has also been shown to inhibit oligodendrocyte differentiation in mice, however the underlying molecular mechanisms remain poorly understood. Here we demonstrate that SOX4 regulates transcriptional targets associated with neural development in neural stem cells (NSCs), reducing the expression of genes promoting oligode...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

High fat diet activates adult mouse lung stem cells and accelerates several aging-induced effects
Publication date: Available online 4 October 2018Source: Stem Cell ResearchAuthor(s): Ahmed E. Hegab, Mari Ozaki, Fatma Y. Meligy, Shizuko Kagawa, Makoto Ishii, Tomoko BetsuyakuAbstractHigh fat diet (HFD) decreases the lifespan of mice, and is a risk factor for several human diseases. Here, we investigated the effects of a HFD on lung epithelial and stem cells and its interaction with aging. Young and old mice were fed with either a standard diet (SD) or a HFD then their trachea and lung were examined for histological changes, inflammation, and mitochondrial function. Their stem cell function was examined using the in-vitr...
Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research

Generation and characterization of two human induced pluripotent stem cell (hiPSC) lines homozygous for the Apolipoprotein e4 (APOE4) risk variant—Alzheimer's disease (ASUi005-A) and healthy non-demented control (ASUi006-A)
Publication date: Available online 21 September 2018Source: Stem Cell ResearchAuthor(s): Nicholas Brookhouser, Ping Zhang, Richard Caselli, Jean J. Kim, David A. BrafmanAbstractAlthough the majority of late-onset Alzheimer's disease (AD) patients are labeled sporadic, multiple genetic risk variants have been identified, the most powerful and prevalent of which is the e4 variant of the Apolipoprotein E (APOE) gene. Here, we generated human induced pluripotent stem cell (hiPSC) lines from the peripheral blood mononuclear cells (PBMCs) of a clinically diagnosed AD patient [ASUi005-A] and a non-demented control (NDC) patient [...
Source: Stem Cell Research - September 22, 2018 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B
Publication date: Available online 22 September 2018Source: Stem Cell ResearchAuthor(s): Sara Vallejo, Aarne Fleischer, José María Martín, Almudena Sánchez, Esther Palomino, Daniel BachillerAbstractMucoplysaccharydosis IIIA (MPSIIIA) is the most severe form of Sanfilippo syndrome. Skin fibroblasts from a MPSIIIA compound heterozygous (E447K/R245H) patient were nucleofected with four OriP/EBNA1-based episomal plasmids containing: OCT3/4, SOX2, KLF4, L-Myc, LIN28, BCL-xL and shp53. The two iPSCs lines generated carry both sulfamidase enzyme (SGSH) mutations, are free of plasmid integration, have n...
Source: Stem Cell Research - September 22, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT
Publication date: Available online 20 September 2018Source: Stem Cell ResearchAuthor(s): Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk MøllerAbstractBardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of a...
Source: Stem Cell Research - September 21, 2018 Category: Stem Cells Source Type: research

Viral-free generation and characterization of a human induced pluripotent stem cell line from dermal fibroblasts
Publication date: Available online 19 September 2018Source: Stem Cell ResearchAuthor(s): Martin Engel, Rachelle Balez, Sonia Sanz Muñoz, Mauricio Cabral-da-Silva, Claire Stevens, Monique Bax, Dzung Do-Ha, Kuldip Sidhu, Perminder Sachdev, Lezanne OoiAbstractPeripheral dermal fibroblasts (DF) from a healthy 56 year old female were obtained from the Centre for Healthy Brain Ageing (CHeBA) Biobank, University of New South Wales, under the material transfer agreement with the University of Wollongong. DFs were reprogrammed via mRNA-delivered transcription factors into induced pluripotent stem cells (iPSCs). The generat...
Source: Stem Cell Research - September 20, 2018 Category: Stem Cells Source Type: research

Characterization of a human induced Pluripotent Stem (iPS) cell line (INCABRi002-A) derived from a primary myelofibrosis patient harboring the 5-bp insertion in CALR and the p.W146X mutation in TP53
In this study, we generated an induced Pluripotent Stem (iPS) cell line derived from a 65-year old male PMF patient carrying the 5-pb insertion in the CALR gene (CALRins5) and the c.437 G > A mutation in the TP53 gene (p.W146X). The newly derived PMF3.17 iPS cell line harbors the original mutations and was characterized as bona fide iPS.Resource tableUnique stem cell line identifierINCABRi002-AAlternative name(s) of stem cell linePMF3.17InstitutionBrazilian National Cancer Institute and D'Or Institute for Research and EducationContact information of distributorMartin Bonamino, PhD, , Bárbara Monte Mór,...
Source: Stem Cell Research - September 20, 2018 Category: Stem Cells Source Type: research

Generation of human induced pluripotent stem cell lines (hiPSC) from one bipolar disorder patient carrier of a DGKH risk haplotype and one non-risk-variant-carrier bipolar disorder patient
Publication date: Available online 17 September 2018Source: Stem Cell ResearchAuthor(s): Viola Stella Palladino, Nadia Omega Cipta Subrata, Andreas Geburtig-Chiocchetti, Rhiannon McNeill, Per Hoffmann, Andreas Reif, Sarah Kittel-SchneiderAbstractFibroblasts were isolated from skin biopsies from two patients with bipolar I disorder. One patient was a 26 year old female carrying a risk haplotype in the DGKH (diacylglycerol kinase eta) gene and the other was a non-carrier 27 year old male. Patient fibroblasts were reprogrammed into human induced pluripotent stem cells (hiPSCs) by using a Sendai virus vector. DGKH-risk hap...
Source: Stem Cell Research - September 19, 2018 Category: Stem Cells Source Type: research

Construction of a GLI3 compound heterozygous knockout human embryonic stem cell line WAe001-A-20 by CRISPR/Cas9 editing
In this study, we established a compound heterozygous GLI3 mutant human embryonic stem cell line (WAe001-A-20) through CRISPR/Cas9 editing. The WAe001-A-20 cells carried two deletions on two different alleles of exon 2 of GLI3, respectively, which resulted in a frame shift and early termination in the translation of GLI3. Moreover, WAe001-A-20 maintains a normal karyotype, parental cell morphology, pluripotent phenotype and the ability to differentiate into three germ layers.Resource tableUnique stem cell line identifierWAe001-A-20Alternative name(s) of stem cell lineH1-GLI3-KOInstitutionGuangzhou Institutes of Biomedicine...
Source: Stem Cell Research - September 19, 2018 Category: Stem Cells Source Type: research

Alterations of MEK1/2-ERK1/2, IFNγ and Smad2/3 associated signalling pathways during cryopreservation of ASCs affect their differentiation towards VSMC-like cells
This study compared fresh ASCs (FA) vs. cryopreserved ASCs (CA) with respect to their differentiation potential towards VSMC-like cells. The expression of contractile VSMC markers (such as smoothelin) and cell contractility were investigated. It was found that VSMC-like cells derived from CA expressed smoothelin gene and protein at lower levels and showed compromised contractility in response to vasoconstrictors, when compared with those derived from FA. Moreover, it was demonstrated that this negative effect of cryopreservation could be mediated by MEK1/2-ERK1/2, IFNγ and Smad2/3 associated signalling pathways. Trea...
Source: Stem Cell Research - September 11, 2018 Category: Stem Cells Source Type: research

Editorial Board
Publication date: August 2018Source: Stem Cell Research, Volume 31Author(s): (Source: Stem Cell Research)
Source: Stem Cell Research - September 8, 2018 Category: Stem Cells Source Type: research

Characterizing the role of SWI/SNF-related chromatin remodeling complexes in planarian regeneration and stem cell function
Publication date: Available online 7 September 2018Source: Stem Cell ResearchAuthor(s): Toria Trost, Jessica Haines, Austin Dillon, Brittany Mersman, Mallory Robbins, Peyton Thomas, Amy HubertAbstractSWI/SNF-related chromatin remodeling complexes, including the human BAF and PBAF complexes, are involved in controlling stem cell pluripotency and differentiation in many species. However, these complexes have not been fully characterized in planarians, an emerging model for the in vivo study of stem cells. These flatworms have the ability to regenerate following injury or amputation, and we sought to investigate the role of c...
Source: Stem Cell Research - September 8, 2018 Category: Stem Cells Source Type: research

Spinal cord organogenesis model reveals role of Flk1+ cells in self-organization of neural progenitor cells into complex spinal cord tissue
Publication date: Available online 6 September 2018Source: Stem Cell ResearchAuthor(s): Baohan Pan, Hushan Ao, Su Liu, Yuming Xu, John W. McDonald, Visar BeleguAbstractA platform for studying spinal cord organogenesis in vivo where embryonic stem cell (ESC)-derived neural progenitor cells (NPC) self-organize into spinal cord-like tissue after transplantation in subarachnoid space of the spinal cord has been described. We advance the applicability of this platform by imaging in vivo the formed graft through T2w magnetic resonance imaging (MRI). Furthermore, we used diffusion tensor imaging (DTI) to verify the stereotypical ...
Source: Stem Cell Research - September 7, 2018 Category: Stem Cells Source Type: research

Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50
Publication date: Available online 6 September 2018Source: Stem Cell ResearchAuthor(s): Benedetta Ermon, Claudia B. Volpato, Giada Cattelan, Rosamaria Silipigni, Marina Di Segni, Chiara Cantaloni, Michela Casella, Peter P. Pramstaller, Giulio Pompilio, Elena Sommariva, Viviana Meraviglia, Alessandra RossiniAbstractArrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium. Causative mutations are mainly reported in desmosomal genes, especially in plakophilin2 (PKP2). Here, using a virus-free reprogramming approach, we generated ...
Source: Stem Cell Research - September 7, 2018 Category: Stem Cells Source Type: research

Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7
Publication date: Available online 6 September 2018Source: Stem Cell ResearchAuthor(s): Elisa Maria Turco, Ersilia Vinci, Filomena Altieri, Daniela Ferrari, Barbara Torres, Marina Goldoni, Giuseppe Lamorte, Ada Maria Tata, Gianluigi Mazzoccoli, Diana Postorivo, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica RosatiAbstractCHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication o...
Source: Stem Cell Research - September 7, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation
Publication date: Available online 31 August 2018Source: Stem Cell ResearchAuthor(s): Niklas Schwarz, Betül Uysal, Filip Rosa, Heidi Löffler, Ulrike A. Mau-Holzmann, Stefan Liebau, Holger LercheAbstractMutations in the KCNA2 gene, coding for the voltage-gated K+ channel Kv1.2, can cause developmental and epileptic encephalopathies. Kv1.2 channels play an important role in the repolarization phase of an action potential in nerve cells. Here, we reprogrammed human skin fibroblasts from a 13-year-old male patient with developmental and epileptic encephalopathy carrying a point mutation (c.982T>G, p.Leu328Val) in ...
Source: Stem Cell Research - August 31, 2018 Category: Stem Cells Source Type: research

Long-term organoid culture reveals enrichment of organoid-forming epithelial cells in the fimbrial portion of mouse fallopian tube
Publication date: Available online 25 August 2018Source: Stem Cell ResearchAuthor(s): Ying Xie, Eunsil Park, Dongxi Xiang, Zhe LiAbstractA recent paradigm shift in ovarian cancer research is the finding that many ovarian cancers may originate from fallopian tube epithelial (FTE) cells. As tissue stem and progenitor cells often serve as cells of origin of cancer, a better understanding of FTE stem/progenitor cells and how they become transformed is essential for early detection and prevention of ovarian cancer. To facilitate study of FTE stem/progenitor cells in model systems, we established an organoid culture system for m...
Source: Stem Cell Research - August 26, 2018 Category: Stem Cells Source Type: research

Establishment of TUSMi004-A, an induced pluripotent stem cell (iPSC) line from a 32-year old Chinese Han patient with Obsessive-Compulsive Disorder (OCD)
Publication date: Available online 24 August 2018Source: Stem Cell ResearchAuthor(s): Ying Wang, Chuanyuan Kang, Hongxiang Yu, Jing Fen, Xiquan Ma, Ying Lei, Jian ZhaoAbstractA 32-year old Obsessive-Compulsive Disorder (OCD) male patient donated his Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system used to reprogram PBMCs with the human OKSM transcription factors. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry for pluripotency markers and by the ability of the iPSCs to differentiate spontaneously into 3 germ layers in vitro. In addition, the iPSC line displ...
Source: Stem Cell Research - August 25, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line(ZZUi006-A)from a patient with myotonic dystrophy type 1
Publication date: Available online 22 August 2018Source: Stem Cell ResearchAuthor(s): Yanlin Wang, Zhilei Wang, Huifang Sun, Changhe Shi, Jing Yang, Yutao Liu, Han Liu, Shoutao Zhang, Li Zhang, Yuming Xu, Jin ZhangAbstractMyotonic dystrophy type 1 (DM1) is a dominantly inherited neurodegenerative disease caused by a CTG repeat expansion close to the DMPK gene. The fibroblasts from a patient with DM1 were successfully converted to induced pluripotent stem cells (iPSCs), designated ZZUi006-A, by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, L-MYC. The ZZUi006-A cell line may provide a robust platform for ...
Source: Stem Cell Research - August 24, 2018 Category: Stem Cells Source Type: research

Patterning factors during neural progenitor induction determine regional identity and differentiation potential in vitro
This study compared neural induction protocols involving in vitro patterning with single SMAD inhibition (SSI), retinoic acid (RA) administration and dual SMAD inhibition (DSI). While the derived NP cells expressed known NP markers, they differed in their NP expression profile and differentiation potential. Cortical neuronal cells generated from 1) SSI NPs exhibited less mature neuronal phenotypes, 2) RA NPs exhibited an increased GABAergic phenotype, and 3) DSI NPs exhibited greater expression of glutamatergic lineage markers. Further, although all NPs generated astrocytes, astrocytes derived from the RA-induced NPs had t...
Source: Stem Cell Research - August 24, 2018 Category: Stem Cells Source Type: research

LncRNA TINCR/miR-31-5p/C/EBP-α feedback loop modulates the adipogenic differentiation process in human adipose tissue-derived mesenchymal stem cells
Publication date: Available online 23 August 2018Source: Stem Cell ResearchAuthor(s): Yutong Liu, Yiqun Wang, Xifan He, Sheng Zhang, Kai Wang, Hanjiang Wu, Lin ChenAbstractThe adipogenic differentiation of adipose tissue-derived mesenchymal stem cells (ADSCs) is a critical issue in many obesity-related disorders and it can be regulated by a crucial transcription factor, CCAAT enhancer binding protein α (C/EBP-α). Apart from, the involvement of non-coding RNAs in adipogenic differentiation has also been reported. As we know, Terminal differentiation-induced ncRNA (TINCR) is required in somatic tissue differentia...
Source: Stem Cell Research - August 24, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line (ZZUi007-A) from a 52-year-old patient with a novel CHCHD2 gene mutation in Parkinson’s disease
This study was approved by the medical research ethics committee of the First Affiliated Hospital of Zhengzhou University (NO. 2016-007).Resource utilityCHCHD2 mutation has been shown to be associated with Parkinson's disease (PD) (Shi et al., 2016). Induced pluripotent stem cells (iPSCs), generated from a patient harboring a CHCHD2 mutation, may provide an ideal cell model for exploring the pathogenesis of this disease and aid in drug screening.Resource detailsParkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by resting tremors, muscular rigidity, bradykinesia, and postural inst...
Source: Stem Cell Research - August 24, 2018 Category: Stem Cells Source Type: research

An in vitro model of polycystic liver disease using genome-edited human inducible pluripotent stem cells
In this study, we aimed to mimic the disease process in vitro by genome editing of the PRKCSH locus in human inducible pluripotent stem (iPS) cells. A proportion of cultured human iPS cell-derived CD13+CD133+ HPC differentiated into CD13− cells. During the subsequent gel embedding culture, CD13− cells formed bile ductal marker-positive cystic structures with the polarity of epithelial cells. A deletion of PRKCSH gene increased expression of cholangiocytic transcription factors in CD13− cells and the number of cholangiocytic cyst structure. These results suggest that PRKCSH deficiency promotes the differen...
Source: Stem Cell Research - August 24, 2018 Category: Stem Cells Source Type: research

A complete workflow for the differentiation and the dissociation of hiPSC-derived cardiospheres
Publication date: Available online 24 August 2018Source: Stem Cell ResearchAuthor(s): Benjamin Fischer, Anna Meier, Annika Dehne, Aseem Salhotra, Thao Anh Tran, Sascha Neumann, Katharina Schmidt, Ina Meiser, Julia C. Neubauer, Heiko Zimmermann, Luca GentileAbstractCardiomyocytes derived from human induced pluripotent stem cells (hiPSC-CMs) are an invaluable tool for both basic and translational cardiovascular research. The potential that these cells hold for therapy, disease modeling and drug discovery is hampered by several bottlenecks that currently limit both the yield and the efficiency of cardiac induction. Here, we p...
Source: Stem Cell Research - August 24, 2018 Category: Stem Cells Source Type: research

Paracrine mechanisms in early differentiation of human pluripotent stem cells: Insights from a mathematical model
Publication date: Available online 18 August 2018Source: Stem Cell ResearchAuthor(s): Erika Gaspari, Annika Franke, Diana Robles-Diaz, Robert Zweigerdt, Ingo Roeder, Thomas Zerjatke, Henning KempfAbstractWith their capability to self-renew and differentiate into derivatives of all three germ layers, human pluripotent stem cells (hPSCs) offer a unique model to study aspects of human development in vitro. Directed differentiation towards mesendodermal lineages is a complex process, involving transition through a primitive streak (PS)-like stage. We have recently shown PS-like patterning from hPSCs into definitive endoderm, c...
Source: Stem Cell Research - August 19, 2018 Category: Stem Cells Source Type: research

Establishment of a human iPSC line (MUSIi007-A) from peripheral blood of normal individual using Sendai viral vectors
Publication date: Available online 17 August 2018Source: Stem Cell ResearchAuthor(s): Ponthip Potirat, Methichit Wattanapanitch, Pakpoom Kheolamai, Surapol IssaragrisilAbstractHuman induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMNCs) isolated from a 26-year-old healthy subject to use as a control group for the iPSC line carrying compound heterozygote for mutation in KLF1. The cells were reprogrammed using integration-free method, Sendai viral (SeV) vectors containing KOS, hc-MYC and hKLF4. The established iPSC line (MUSIi007-A) exhibited a normal karyotype, expressed plu...
Source: Stem Cell Research - August 18, 2018 Category: Stem Cells Source Type: research