An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene
Publication date: Available online 13 September 2019Source: Stem Cell ResearchAuthor(s): Yanyan Ma, Haiyan Zhang, Shisong Zhang, Rui Dong, Xiaomeng Yang, Yue Li, Jingyun Guan, Zhongtao Gai, Yi LiuAbstractInduced pluripotent stem cell (iPSC) line (SDQLCHi012-A) was generated from peripheral blood mononuclear cells of an 11-month-old male who was diagnosed as inflammatory bowel disease-28 caused by compound heterozygote for IL10RA mutations (c.188 + 1G > A and c.301C > T). Non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line containe...
Source: Stem Cell Research - September 14, 2019 Category: Stem Cells Source Type: research

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene
Publication date: Available online 14 September 2019Source: Stem Cell ResearchAuthor(s): Yue Li, Haiyan Zhang, Beibei Yan, Yanyan Ma, Xiaomeng Yang, Jingyun Guan, Yuqiang Lv, Min Gao, Jian Ma, Zhongtao Gai, Yi LiuAbstractMaple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib carrying compound heterozygous mutations of c.502C > T/p.R168C and c.965C > ...
Source: Stem Cell Research - September 14, 2019 Category: Stem Cells Source Type: research

Generation of a KSCBi005-A-5(TLR8KO-A10) homozygous knockout human induced pluripotent stem cell line using CRISPR/Cas9
Publication date: October 2019Source: Stem Cell Research, Volume 40Author(s): Hyeong-jun Han, Hyo-Won Han, Hyang-Hee Seo, Jung-Hyun KimAbstractThe Toll like Receptor (TLR) family plays an essential role in pathogen recognition and innate immunity activation. TLR8, an endosomal receptor, can recognize single-stranded RNA viruses, such as influenza virus, Sendai virus, Coxsackie B virus, HIV, and HCV. TLR8 binding to the viral RNA recruits MyD88 and leads to activation of the transcription factor NF-kB and antiviral response. We generated biallelic mutants of the TLR8 gene using a CRISPR-Cas9 genome editing method in human i...
Source: Stem Cell Research - September 14, 2019 Category: Stem Cells Source Type: research

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)
Publication date: Available online 11 September 2019Source: Stem Cell ResearchAuthor(s): Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-FakhariAbstractBi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of induced pluripotent stem cells (iPSCs) from three AP-4-HSP patients with compound-heterozygous, loss-of-function varian...
Source: Stem Cell Research - September 12, 2019 Category: Stem Cells Source Type: research

Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene
We report the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from a female PD patient carrying the L444P/wt mutation. The iPSC line presented a normal morphology, expressed endogenous pluripotency markers, could be differentiated into endodermal, mesodermal and ectodermal cells, was free from Sendai vectors and reprogramming factors, had a normal karyotype and maintained the original GBA1 genotype. Thus, this iPSC line can serve to establish cellular models of PD. (Source: Stem Cell Research)
Source: Stem Cell Research - September 12, 2019 Category: Stem Cells Source Type: research

Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation
We report the generation and characterization of an iPSC line derived from a FAD patient carrying the PSEN1-G206D mutation. The iPSC line maintained the original genotype, a normal karyotype, was free from Sendai viral vectors and reprogramming factors (OCT4, SOX2, KLF4 and c-MYC), presented a typical morphology, expressed endogenous pluripotency markers, and could be differentiated into ectodermal, mesodermal and endodermal cells, confirming its pluripotency. (Source: Stem Cell Research)
Source: Stem Cell Research - September 12, 2019 Category: Stem Cells Source Type: research

Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene
Publication date: Available online 10 September 2019Source: Stem Cell ResearchAuthor(s): Yanyan Ma, Haiyan Zhang, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Hongying Li, Yi Liu, Zhongtao GaiAbstractNemaline myopathy-4 (NEM4) is a very rare inherited muscle disorder caused by a heterozygous mutation in tropomyosin-2 (TPM2) gene. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 3-month-old girl with NEM4 carrying a heterozygous mutation (c.397C>T (p.R133W)) in TPM2 gene. This iPSC line showed a normal karyotype, expressed pluripotency markers, showed differenti...
Source: Stem Cell Research - September 12, 2019 Category: Stem Cells Source Type: research

Electron transport chain complex II sustains high mitochondrial membrane potential in hematopoietic stem and progenitor cells
Publication date: Available online 10 September 2019Source: Stem Cell ResearchAuthor(s): Claudia Morganti, Massimo Bonora, Kyoko Ito, Keisuke ItoAbstractThe role of mitochondria in the fate determination of hematopoietic stem and progenitor cells (HSPCs) is not solely limited to the switch from glycolysis to oxidative phosphorylation, but also involves alterations in mitochondrial features and properties, including mitochondrial membrane potential (ΔΨmt). HSPCs have a high ΔΨmt even when the rates of respiration and phosphorylation are low, and we have previously shown that the minimum proton flow throu...
Source: Stem Cell Research - September 12, 2019 Category: Stem Cells Source Type: research

Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)
Publication date: Available online 9 September 2019Source: Stem Cell ResearchAuthor(s): Jelinkova Sarka, Markova Lenka, Pesl Martin, Valáškova Iveta, Makaturová Eva, Jurikova Lenka, Vondracek Petr, Lacampagne Alain, Dvorak Petr, C. Meli Albano, Rotrekl VladimirAbstractDuchenne muscular dystrophy (DMD) affects 1:3500–5000 newborn boys and manifests with progressive skeletal muscle wasting, respiratory failure and eventual heart failure. Symptoms show different onset from patients' childhood to the second decade of age. We reprogrammed fibroblasts from two independent DMD patients with a complete l...
Source: Stem Cell Research - September 11, 2019 Category: Stem Cells Source Type: research

Improved methods for the differentiation of hypothalamic vasopressin neurons using mouse induced pluripotent stem cells
In this report, we improved the handling technique applied to mouse-induced pluripotent stem (iPS) cells, resulting in better differentiation into hypothalamic vasopressin (AVP) neurons. We modified the culture procedure to make the maintenance of iPS cells in an undifferentiated state much easier. Three-dimensional floating culture was demonstrated to be effective for mouse iPS cells. We also improved the differentiation method with regards to embryology, resulting in a greater number of bigger colonies of AVP neurons differentiating from mouse iPS cells. Fgf8, which was not used in the original differentiation method, in...
Source: Stem Cell Research - September 7, 2019 Category: Stem Cells Source Type: research

Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene
Publication date: Available online 6 September 2019Source: Stem Cell ResearchAuthor(s): Haiyan Zhang, Yanyan Ma, Beibei Yan, Xiaomeng Yang, Yue Li, Jingyun Guan, Rui Dong, Yi Liu, Zhongtao GaiAbstractWe established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese neonate with mastocytosis carrying heterozygous mutation (c.2447A > T (p.D816V)) in KIT gene by episomal vector (EV) reprogramming system. This iPSC line carrying KIT gene mutation, was free of exogenous gene, showed a normal karyotype, expressed pluripotency markers and exhibited differentiation potential. (...
Source: Stem Cell Research - September 7, 2019 Category: Stem Cells Source Type: research

Generation of iPSC line (GIBHi001-A) from a patient with autism spectrum disorder
In this study, urine cells were collected from a 16-year-old male with ASD and reprogrammed with the human SKOM transcription factors. The patient has a heterozygous C > T mutation of FCGR1B gene that was confirmed by sequencing analysis. The pluripotency was verified by gene expression and capacity of differentiation towards the three germ layers. This kind of iPSC will be valuable for further understanding the pathogenesis of ASD and help to develop drugs for treating ASD. (Source: Stem Cell Research)
Source: Stem Cell Research - September 7, 2019 Category: Stem Cells Source Type: research

Generation of best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene
Publication date: Available online 4 September 2019Source: Stem Cell ResearchAuthor(s): Judit Domingo-Prim, Marina Riera, Víctor Abad-Morales, Sheila Ruiz-Nogales, Borja Corcostegui, Esther PomaresAbstractBest disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were reprogrammed to iPSCs by the non-integrative Sendai-virus method. The iPSC line has been characterized preserving the BE...
Source: Stem Cell Research - September 5, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene
Publication date: Available online 4 September 2019Source: Stem Cell ResearchAuthor(s): Judit Domingo-Prim, Víctor Abad-Morales, Marina Riera, Rafael Navarro, Borja Corcostegui, Esther PomaresAbstractIncomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related with this vision disorder. Skin fibroblasts from a patient with incomplete ACHM were reprogrammed to iPSCs ...
Source: Stem Cell Research - September 5, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene
Publication date: Available online 31 August 2019Source: Stem Cell ResearchAuthor(s): Xiaomeng Yang, Tiancheng Zhou, Haiyan Zhang, Yue Li, Rui Dong, Ning Liu, Guangjin Pan, Yi Liu, Zhongtao GaiAbstractAn induced pluripotent stem cell (iPSC) line was generated from human urine-derived cells of a 4 year-old boy with autism spectrum disorder(ASD) and developmental delay (DD) carrying a 830 kb de novo deletion at chromosome 7q11.22 disrupting the first exon and promoter region of AUTS2. The iPSC retained the original deletion of AUTS2, and had a normal karyotype, express pluripotency markers and bear differentiation potent...
Source: Stem Cell Research - September 2, 2019 Category: Stem Cells Source Type: research

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line
Publication date: October 2019Source: Stem Cell Research, Volume 40Author(s): Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe MerlaAbstractGNB5 loss-of-function pathogenic variants cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability, sinus bradycardia, hypotonia, visual abnormalities, and epilepsy. We generated human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of a patient with the homozygous c...
Source: Stem Cell Research - August 31, 2019 Category: Stem Cells Source Type: research

Generation of six induced pluripotent stem cell (iPSC) lines from two patients with amyotrophic lateral sclerosis (NUIGi043-A, NUIGi043-B, NUIGi043-C, NUIGi044-A, NUIGi044-B, NUIGi044-C)
In this study, we generated 6 induced pluripotent stem cell (iPSC) lines derived from dermal fibroblasts of patients with sporadic amyotrophic lateral sclerosis (sALS). The fibroblasts were reprogrammed using non-integrating Sendai viruses containing four reprogramming factors OCT3/4, SOX2, KLF4 and C-MYC. The iPSC lines displayed normal molecular karyotype, expressed pluripotency markers and were capable of differentiating into three embryonic germ layers. (Source: Stem Cell Research)
Source: Stem Cell Research - August 30, 2019 Category: Stem Cells Source Type: research

Differentiation of neural rosettes from human pluripotent stem cells in vitro is sequentially regulated on a molecular level and accomplished by the mechanism reminiscent of secondary neurulation
Publication date: Available online 29 August 2019Source: Stem Cell ResearchAuthor(s): Veronika Fedorova, Tereza Vanova, Lina Elrefae, Jakub Pospisil, Martina Petrasova, Veronika Kolajova, Zuzana Hudacova, Jana Baniariova, Martin Barak, Lucie Peskova, Tomas Barta, Marketa Kaucka, Michael Killinger, Josef Vecera, Ondrej Bernatik, Lukas Cajanek, Hana Hribkova, Dasa BohaciakovaAbstractDevelopment of neural tube has been extensively modeled in vitro using human pluripotent stem cells (hPSCs) that are able to form radially organized cellular structures called neural rosettes. While a great amount of research has been done using ...
Source: Stem Cell Research - August 30, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line (ZZUi0014-A) from a patient with spinocerebellar ataxia type 3
Publication date: Available online 29 August 2019Source: Stem Cell ResearchAuthor(s): Yanlin Wang, Huifang Sun, Zhuoya Wang, Yiwei Yue, Rui Zhang, Jing Yang, Yutao Liu, Han Liu, Qi Zhang, Shoutao Zhang, Jin Zhang, Yuming Xu, Changhe ShiAbstractSpinocerebellar ataxia type 3 (SCA3) is an autosomal dominant disorder that is caused by the abnormal amplification of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene. The main feature of SCA3 is progressive ataxia. Currently, no effective treatment exists for this condition. For this study, we obtained dermal fibroblasts from a patient. The fibroblasts were su...
Source: Stem Cell Research - August 30, 2019 Category: Stem Cells Source Type: research

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
Publication date: Available online 29 August 2019Source: Stem Cell ResearchAuthor(s): Victoria Cerrada, Marta García-López, Ana Moreno-Izquierdo, Cristina Villaverde, Olga Zurita, Maria Inmaculada Martin-Merida, Joaquín Arenas, Carmen Ayuso, M. Esther GallardoAbstractHuman iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using a non-integrative methodology that involves the use of Sendai virus. (Source: Stem Cell Research)
Source: Stem Cell Research - August 30, 2019 Category: Stem Cells Source Type: research

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations
Publication date: Available online 28 August 2019Source: Stem Cell ResearchAuthor(s): Valentina Alari, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa, Luciano Calzari, Claudia Scalera, Daniela Concolino, Elisa Castiglioni, Daniela Giardino, Ennio Prosperi, Palma Finelli, Cristina Gervasini, Aoife Gowran, Lidia LarizzaAbstractRubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We characterized 3 iPSC lines generated by Sendai from blood ...
Source: Stem Cell Research - August 30, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3
Publication date: Available online 27 August 2019Source: Stem Cell ResearchAuthor(s): Lang He, Wei Ye, Zhao Chen, Chunrong Wang, Huifang Zhao, Shuai Li, Linliu Peng, Xiaobo Han, Tiancheng Zhou, Zhiyuan Li, Beisha Tang, Hong JiangAbstractThe induced pluripotent stem cell (iPSC) line XHCSUi001-A generated from urine cells of a female spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) patient by using the integration-free methods. The induced XHCSUi001-A retained the disease-causing ATXN3 mutation, expressed pluripotency markers, exhibited a normal karyotype and retained the ability to differentiate into the thre...
Source: Stem Cell Research - August 28, 2019 Category: Stem Cells Source Type: research

Generation of a KSCBi005-A-5 homozygous knockout human induced pluripotent stem cell line using CRISPR/Cas9
Publication date: Available online 27 August 2019Source: Stem Cell ResearchAuthor(s): Hyeong-jun Han, Hyo-Won Han, Hyang-Hee Seo, Jung-Hyun KimAbstractThe Toll like Receptor (TLR) family plays an essential role in pathogen recognition and innate immunity activation. TLR8, an endosomal receptor, can recognize single-stranded RNA viruses, such as influenza virus, Sendai virus, Coxsackie B virus, HIV, and HCV. TLR8 binding to the viral RNA recruits MyD88 and leads to activation of the transcription factor NF-kB and antiviral response. We generated biallelic mutants of the TLR8 gene using a CRISPR-Cas9 genome editing method in...
Source: Stem Cell Research - August 28, 2019 Category: Stem Cells Source Type: research

Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene
Publication date: Available online 28 August 2019Source: Stem Cell ResearchAuthor(s): M.M. Gridina, T.V. Nikitina, I.E. Pristyazhnyuk, A.A. Kashevarova, M.E. Lopatkina, S.A. Vasilyev, L.P. Nazarenko, I.N. Lebedev, O.L. SerovAbstractThe 3p26.3 microduplication involving the CNTN6 gene cause developmental delay and the intellectual disability. However, the incomplete penetrance is described for this copy number variation (CNV). Here we describe ICAGi002-A line, which is supposed to use as a model for studying of the penetrance of the CNV in 3p26.3. The ICAGi002-A iPSCs line was obtained by the reprogramming of the skin fibro...
Source: Stem Cell Research - August 28, 2019 Category: Stem Cells Source Type: research

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
Publication date: Available online 28 August 2019Source: Stem Cell ResearchAuthor(s): Erik van der Wal, Bianca den Hamer, Patrick J. van der Vliet, Merve Tok, Tom Brands, Bert Eussen, Richard J.L.F. Lemmers, Christian Freund, Annelies de Klein, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom, Rabi Tawil, Silvère M. van der Maarel, Jessica C. de GreefAbstractFacioscapulohumeral dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4q resulting in sporadic misexpression of the transcription factor DUX4 in skeletal muscle tissue. In ~4% of families, de novo D4Z4 contractions occur afte...
Source: Stem Cell Research - August 28, 2019 Category: Stem Cells Source Type: research

Generation of a NESTIN-EGFP reporter human induced pluripotent stem cell line, KSCBi005-A-1, using CRISPR/Cas9 nuclease
Publication date: Available online 27 August 2019Source: Stem Cell ResearchAuthor(s): Youngsun Lee, Hye Young Choi, Ara Kwon, Hyeyeon Park, Mihyun Park, Yong-Ou Kim, Sungwook Kwak, Soo Kyung KooAbstractNESTIN, an intermediate filament, is a neuroectodermal marker involved in induced pluripotent stem cell (iPSC) differentiation toward neural lineages. Here, we introduced an EGFP reporter into the C-terminus of NESTIN in KSCBi005-A hiPSCs through homologous recombination using CRISPR/Cas9 nuclease. The successfully edited line was confirmed by sequencing and had a normal karyotype. It expressed EGFP upon induction of neural ...
Source: Stem Cell Research - August 27, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations
Publication date: Available online 27 August 2019Source: Stem Cell ResearchAuthor(s): Ching-Chi Chiu, Hung-Li Wang, Yi-Hsin Weng, Rou-Shayn Chen, Chiung-Mei Chen, Tu-Hsueh Yeh, Chin-Song Lu, Yu-Jie Chen, Yu-Chuan Liu, Ying-Zu Huang, Kuo-Hsuan ChangAbstractMutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/p.M358IfsX) mutations. The c.1077G > A mutation led to a four base-pairs deletion and frameshift mutation (p.M358I...
Source: Stem Cell Research - August 27, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)
Publication date: Available online 27 August 2019Source: Stem Cell ResearchAuthor(s): Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli, Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica RosatiAbstractDentato-Rubral-pallidoluysian atrophy (DRPLA) is a rare autosomal, dominant, progressive neurodegenerative disease that causes involuntary movements, mental and emotional problems. DRPLA is caused by a mutation in the ATN1 gene that encodes for ...
Source: Stem Cell Research - August 27, 2019 Category: Stem Cells Source Type: research

Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
Publication date: Available online 23 August 2019Source: Stem Cell ResearchAuthor(s): Zhiqin Huang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Terri McLaren, Tina Lamey, John N. De Roach, Samuel McLenachan, Fred K. ChenAbstractVariants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal f...
Source: Stem Cell Research - August 24, 2019 Category: Stem Cells Source Type: research

Fancd2-deficient hematopoietic stem and progenitor cells depend on augmented mitochondrial translation for survival and proliferation
Publication date: Available online 23 August 2019Source: Stem Cell ResearchAuthor(s): Srinivas Chatla, Wei Du, Andrew F. Wilson, Amom Ruhikanta Meetei, Qishen PangAbstractMembers of the Fanconi anemia (FA) protein family are involved in multiple cellular processes including response to DNA damage and oxidative stress. Here we show that a major FA protein, Fancd2, plays a role in mitochondrial biosynthesis through regulation of mitochondrial translation. Fancd2 interacts with Atad3 and Tufm, which are among the most frequently identified components of the mitochondrial nucleoid complex essential for mitochondrion biosynthes...
Source: Stem Cell Research - August 24, 2019 Category: Stem Cells Source Type: research

Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons
In this study, we examined the switch in Tau splicing from fetal-only to all adult Tau isoforms during the differentiation of iPSC-derived neurons in a new 3D culture system. First, we showed that iPSC-induced neurons inside Matrigel-coated alginate capsules were able to differentiate into cortical neurons. Then, using a new assay that allowed both the qualitative and the quantitative analysis of all adult MAPT mRNA isoforms individually, we demonstrated that BrainPhys-maintained neurons expressed the 6 adult MAPT mRNA transcripts from 25 weeks of maturation, making this model highly suitable for modeling Tau pathology a...
Source: Stem Cell Research - August 24, 2019 Category: Stem Cells Source Type: research

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease
Publication date: Available online 23 August 2019Source: Stem Cell ResearchAuthor(s): Lanzi Gaetana, Masneri Stefania, Ferraro Rosalba Monica, Genova Elena, Piovani Giovanna, Barisani Chiara, Pelin Marco, Stocco Gabriele, Decorti Giuliana, Bramuzzo Matteo, Giliani SilviaAbstractCrohn's disease is a debilitating and incurable chronic inflammatory bowel disease, affecting millions of individuals worldwide, with an increasing frequency. Surgery must be applicable in half of the cases often with a disabling course, and pharmacological treatments may have adverse complications. We generated three isogenic clones of iPSCs from p...
Source: Stem Cell Research - August 24, 2019 Category: Stem Cells Source Type: research

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line
Publication date: Available online 22 August 2019Source: Stem Cell ResearchAuthor(s): Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe MerlaAbstractGNB5 loss-of-function pathogenic variant cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability, sinus bradycardia, hypotonia, visual abnormalities, and epilepsy. We generated a human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of a patient with the hom...
Source: Stem Cell Research - August 24, 2019 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line, IMSUTi002-A-1, harboring the leukemia-specific fusion gene ETV6-RUNX1
Publication date: Available online 22 August 2019Source: Stem Cell ResearchAuthor(s): Masayuki Takahashi, Satoshi YamazakiAbstractReprograming human primary cancer cells remains technically challenging, and leukemia-specific human induced pluripotent stem cell (hiPSC) lines have not yet been generated from tissues of patients with acute leukemia (Muñoz-López et al., 2016). Here, we developed an hiPSC line with a doxycycline-inducible expression system with the fusion gene ETV6-RUNX1 integrated into the genome. This is the most common genetic aberration found in childhood leukemia. This hiPSC line will be a us...
Source: Stem Cell Research - August 24, 2019 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cell lines from patients with unbalanced translocation (3;22)
Publication date: Available online 21 August 2019Source: Stem Cell ResearchAuthor(s): Yanyan Ma, Haiyan Zhang, Xiaomeng Yang, Yue Li, Jingyun Guan, Kaihui Zhang, Yan Huang, Guangjin Pan, Zhongtao Gai, Yi LiuAbstractHere we describe the generation and characterization of the human induced pluripotent stem cell (iPSC) lines from urine-derived cells (UCs) from two patients with unbalanced chromosomal translocation t(3,22)(q28;q13.3). The iPSC lines retain the original chromosome abnormality, express pluripotency markers and bear differentiation potential. (Source: Stem Cell Research)
Source: Stem Cell Research - August 22, 2019 Category: Stem Cells Source Type: research

Telomere dynamics and hematopoietic differentiation of human DKC1-mutant induced pluripotent stem cells
Publication date: Available online 20 August 2019Source: Stem Cell ResearchAuthor(s): Flavia S. Donaires, Raquel M. Alves-Paiva, Fernanda Gutierrez-Rodrigues, Fernanda Borges da Silva, Maria Florencia Tellechea, Lilian Figueiredo Moreira, Barbara A. Santana, Fabiola Traina, Cynthia E. Dunbar, Thomas Winkler, Rodrigo T. CaladoAbstractTelomeropathies are a group of phenotypically heterogeneous diseases molecularly unified by pathogenic mutations in telomere-maintenance genes causing critically short telomeres. X-linked dyskeratosis congenita (DC), the prototypical telomere disease, manifested with ectodermal dysplasia, cance...
Source: Stem Cell Research - August 21, 2019 Category: Stem Cells Source Type: research

Generation of a CFTR knock-in reporter cell line (MHHi006-A-1) from a human induced pluripotent stem cell line
Publication date: Available online 20 August 2019Source: Stem Cell ResearchAuthor(s): Lena Engels, Ruth Olmer, Jeanne de la Roche, Gudrun Göhring, Saskia Ulrich, Ralf Haller, Ulrich Martin, Sylvia MerkertAbstractCFTR encodes for a chloride ion channel expressed primarily in secretory epithelia in the airways, intestine, liver and other tissues. Mutations in the CFTR gene have been identified in people suffering from Cystic Fibrosis. Here, we established a CFTR knock-in reporter cell line from a human iPSC line (MHHi006-A) using TALEN technology. The reporter enables the monitoring and optimization of the differentiati...
Source: Stem Cell Research - August 21, 2019 Category: Stem Cells Source Type: research

Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51–53 of the dystrophin gene (CCMi003-A)
Publication date: Available online 20 August 2019Source: Stem Cell ResearchAuthor(s): Rovina Davide, Castiglioni Elisa, Farini Andrea, Bellichi Marzia, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Santoro Rosaria, Torrente Yvan, Pompilio Giulio, Gowran AoifeAbstractDuchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogrammed into induced pluripotent stem cells (iPSCs) by electroporation wi...
Source: Stem Cell Research - August 21, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation
In this study we reprogrammed fibroblasts from a 6-months-old male patient with DEE carrying a de novo point mutation (c.1120A > G, p.Thr374Ala) in KCNA2 to induced pluripotent stem cells. Their pluripotency 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 - August 21, 2019 Category: Stem Cells Source Type: research

Corrigendum to ‘Generation of induced pluripotent stem cell line (ZZUi0012-a) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene’ [stem cell research volume 35, March 2019, 101,395]
Publication date: Available online 19 August 2019Source: Stem Cell ResearchAuthor(s): Qinxian Zhang, Zhuo Li, Huifang Sun, Shoutao Zhang, Jin Zhang, Yanlin Wang, Hui Fang, Yuming Xu (Source: Stem Cell Research)
Source: Stem Cell Research - August 21, 2019 Category: Stem Cells Source Type: research

A pathway for attesting ethical provenance of cell lines: Lessons from the European human pluripotent stem cell registry (hPSCreg)
Publication date: Available online 19 August 2019Source: Stem Cell ResearchAuthor(s): Rosario Isasi, Joana Namorado, Nancy Mah, Nils Bultjer, Andreas Kurtz (Source: Stem Cell Research)
Source: Stem Cell Research - August 21, 2019 Category: Stem Cells Source Type: research

Mesenchymal stem cells preserve their stem cell traits after exposure to antimetabolite chemotherapy
DiscussionThe observed resistance and functional integrity may form the basis for further investigations of MSCs as a potential therapy for antimetabolite-induced tissue damage. (Source: Stem Cell Research)
Source: Stem Cell Research - August 21, 2019 Category: Stem Cells Source Type: research

Prolactin hormone exerts anti-tumorigenic effects in HER-2 overexpressing breast cancer cells through regulation of stemness
ConclusionTogether these results emphasize an anti-tumorigenic role with a potential therapeutic value for PRL in HER-2 and luminal B breast cancer subtypes targeting the cancer stem-like cells. (Source: Stem Cell Research)
Source: Stem Cell Research - August 19, 2019 Category: Stem Cells Source Type: research

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming
Publication date: Available online 14 August 2019Source: Stem Cell ResearchAuthor(s): Monique Bax, Rachelle Balez, Sonia Sanz Muñoz, Dzung Do-Ha, Claire H. Stevens, Tracey Berg, Mauricio e Castro Cabral-da-Silva, Martin Engel, Garth Nicholson, Shu Yang, Ian P. Blair, Lezanne OoiAbstractDermal fibroblasts from a 59 year old male patient with amyotrophic lateral sclerosis (symptomatic at the time of collection), attributed to a mutation in the cyclin F gene (CCNFS621G), were reprogrammed using mRNA and microRNA-delivered OSKM factors to induced pluripotent stem cells (iPSCs). The generated iPSCs were confirmed pluri...
Source: Stem Cell Research - August 15, 2019 Category: Stem Cells Source Type: research

Mesenchymal stem cells preserve their stem cell traits after exposure antimetabolite chemotherapy
DiscussionThe observed resistance and functional integrity may form the basis for further investigations of MSCs as a potential therapy for antimetabolite-induced tissue damage. (Source: Stem Cell Research)
Source: Stem Cell Research - August 14, 2019 Category: Stem Cells Source Type: research

Chorionic and amniotic membrane-derived stem cells have distinct, and gestational diabetes mellitus independent, proliferative, differentiation, and immunomodulatory capacities
Publication date: Available online 13 August 2019Source: Stem Cell ResearchAuthor(s): Liyun Chen, Marwan M. Merkhan, Nicholas R. Forsyth, Pensee WuAbstractPlacental membrane-derived mesenchymal stem cells (MSCs), with the advantages of being non-invasive and having fewer ethical issues, are a promising source for cell therapy. Gestational diabetes (GDM) alters the uterine environment and may affect the therapeutic potential of MSCs derived from placenta. Therefore, we evaluated the biological properties of amniotic (AMSCs) and chorionic membrane MSCs (CMSCs) from human GDM placenta in order to explore their therapeutic pot...
Source: Stem Cell Research - August 14, 2019 Category: Stem Cells Source Type: research

Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2
Publication date: Available online 9 August 2019Source: Stem Cell ResearchAuthor(s): Ruizhu Zeng, Harwin Sidik, Kim S. Robinson, Franklin L. Zhong, Bruno Reversade, Mahmoud A. PouladiAbstractRett syndrome (RTT) is a childhood neurodevelopmental disorder caused by mutations in MECP2. To study the molecular mechanisms underlying RTT, four sublines of H1 hESCs were generated, carrying a hemizygous knockout or mutant allele of MECP2. Exons 3 and 4 of MECP2 were targeted using the CRISPR/Cas9 nuclease system. (Source: Stem Cell Research)
Source: Stem Cell Research - August 11, 2019 Category: Stem Cells Source Type: research

Generation of integration free human iPSC line SORMi002-A from neonatal foreskin fibroblasts
In this study NFFs were reprogrammed to iPSCs using non-integrating episomal reprogramming plasmids. The iPSCs generated express pluripotency markers. They form embryoid bodies and differentiate in vitro into cells of endoderm, mesoderm and ectoderm. They have a normal male karyotype, are genetically identical to the parent fibroblasts and are transgene free. (Source: Stem Cell Research)
Source: Stem Cell Research - August 11, 2019 Category: Stem Cells Source Type: research

Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A
Publication date: Available online 8 August 2019Source: Stem Cell ResearchAuthor(s): Hao Liu, Yatping Tsui, Jiaxian Wang, Chen Su, Rui Zheng, Yongfeng Shao, Buqing NiAbstractThe human induced pluripotent stem cell line HELPi001-A was derived from peripheral blood mononuclear cells (PBMC) of a 35-year-old female Beals syndrome patient carrying a heterozygous FBN2c.728 T > C mutation. HELPi001-A were positive for pluripotent stem cell markers, had a normal karyotype and the ability to differentiate into cells representing all three germ layers. The patient not only demonstrated typical characteristics of Beals syndr...
Source: Stem Cell Research - August 9, 2019 Category: Stem Cells Source Type: research

Xenogen-free isolation and culture of human adipose mesenchymal stem cells
Publication date: Available online 8 August 2019Source: Stem Cell ResearchAuthor(s): M. Doornaert, E. De Maere, J. Colle, H. Declercq, J. Taminau, K. Lemeire, G. Berx, Ph. BlondeelAbstractBackgroundAdipose-derived Stem Cells (ASCs) present great potential for reconstructive procedures. Currently, isolation by enzyme digestion and culturing using xenogenic substances remain the gold standard, impairing clinical use.MethodsAbdominal lipo-aspirate and blood samples were obtained from healthy patients. A novel mechanical isolation method for ASCs was compared to (the standard) collagenase digestion. ASCs are examined by flowcy...
Source: Stem Cell Research - August 9, 2019 Category: Stem Cells Source Type: research