ER stress reliever enhances functionalities of in vitro cultured hepatocytes
Publication date: Available online 12 February 2020Source: Stem Cell ResearchAuthor(s): Jeong Seong Kim, Seon In Hwang, Jung Lim Ryu, Hee Su Hong, Ji-Min Lee, Sang Min Lee, Xiong Jin, Choongseong Han, Jong-Hoon Kim, Jaeseok Han, Man-Ryul Lee, Dong-Hun WooAbstractEndoplasmic reticulum stress (ER stress) leads an unfolded protein response (UPR) which results in internal cellular responses such as proteostasis and protein clearance. Recently, several reports demonstrated that the ER stress in stem cells could affect their stemness and fates to differentiate into certain lineages. However, the potential for controlling differe...
Source: Stem Cell Research - February 13, 2020 Category: Stem Cells Source Type: research

Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi–Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)
Publication date: March 2020Source: Stem Cell Research, Volume 43Author(s): Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Lena Wendeburg, Doris Steinemann, Christiane Elpers, Frank Rutsch, Renate KönigAbstractAicardi-Goutières syndrome (AGS) is a hereditary early onset encephalopathy. AGS patients display variable clinical manifestations including intracranial calcification, cerebral atrophy, white matter abnormalities and characteristic leukocytosis as well as a constitutive upregulation of type I IFN production indicative of a type I interferonopathy. Seven genes (...
Source: Stem Cell Research - February 13, 2020 Category: Stem Cells Source Type: research

Generation of human induced pluripotent stem cell line (WMUi001-A) from a patient with aortic dissection
Publication date: Available online 6 February 2020Source: Stem Cell ResearchAuthor(s): Peifeng Jin, Sixian Wang, Xu Jiang, Xiaoqiong Shan, Sheng Jiang, Yingyi Quan, Tianci Zhang, Jiwen Yang, Huang Zhang, Jianshe Ma, Miaowu Dong, Junming Fan, Xiaofang Fan, Yongsheng Gong, Yongyu WangAbstractA human induced pluripotent stem cell (hiPSC) line (WMUi001-A) was generated from the aortic tissue of a 47-year-old donor with aortic dissection and normal blood pressure. Integration-free episomal vector-mediated reprogramming was used for the generation of this iPSC line. The established iPSC line was found to express pluripotency mar...
Source: Stem Cell Research - February 7, 2020 Category: Stem Cells Source Type: research

An induced pluripotent stem cell line (SHEHi002-A (5426))from a patient of Long QT syndrome type 8 with c.2573G>A mutation in the gene CACNA1C
Publication date: Available online 6 February 2020Source: Stem Cell ResearchAuthor(s): Hong-Mei Zhou, Xiao-Qian Zhou, Ji-Zhen Lu, Wen-Wen Jia, Jiu-Hong KangAbstractLong QT syndrome type 8 is an uncommon inherited condition .An induced pluripotent stem cell (iPSC) line was generated from Peripheral blood mononuclear cells (PBMCs) of a 10-year-old patient with heterozygous mutation of p.R858H(c.2573G>A )in the CACNA1C gene. This iPSC model offers a very valuable resource to study the disease pathophysiology and to develop therapeutics for treatment of Long QT syndrome type 8 patients. (Source: Stem Cell Research)
Source: Stem Cell Research - February 7, 2020 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cell lines (FAMRCi005-A and FAMRCi005-B) from patient carrying genetic variant LMNA p.Asp357Val.
Publication date: Available online 5 February 2020Source: Stem Cell ResearchAuthor(s): Polina Klauzen, Kseniya Perepelina, Aleksandr Khudiakov, Anna Zlotina, Yulia Fomicheva, Tatiana Pervunina, Tatiana Vershinina, Anna Kostareva, Anna MalashichevaAbstractLMNA mutations are often linked to laminopathies characterized by tissue-specific disorders. We generated two induced pluripotent stem cells lines from patient carrying genetic variant LMNA p.Asp357Val associated with paroxysmal ventricular tachycardia and myopathy. Reprogramming of patient's peripheral blood mononuclear cells was performed using Sendai viruses. Characteri...
Source: Stem Cell Research - February 6, 2020 Category: Stem Cells Source Type: research

Generation of patient-specific pluripotent induced stem cell line SDUBMSi002-A from a patient with X-linked Mental Retardation Syndrome
Publication date: Available online 5 February 2020Source: Stem Cell ResearchAuthor(s): Xiaolin Liu, Xiaomeng Yang, Yue Li, Xiaojing Wang, Jian Ma, Wei Jiang, Yi Liu, Wenjie Sun, Yaoqin GongAbstractCUL4B gene encodes a scaffold protein that assembles the CRL4B ubiquitin ligase complex, and its mutation can causes X-Linked Mental Retardation (XLMR) emerged with intellectual deficit, delayed puberty, short stature and fine intention tremor. Here we report the generation of SDUBMSi002-A, an induced pluripotent stem cell line derived from patient with c. 1564C→T with CUL4B gene using non-integrative reprogramming technolog...
Source: Stem Cell Research - February 6, 2020 Category: Stem Cells Source Type: research

Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene
In this study, an induced pluripotent stem cell(iPSC) line was generated from human peripheral blood mononuclear cells (PBMC) of a 13year-old male patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. The iPSCs exhibited iPSC morphology, expression of the pluripotency markers and in vitro differentiation potential, and the CSUASOi005-A iPSC line retained the original mutation (c.527T> A) of RS1 with a normal karyotype. (Source: Stem Cell Research)
Source: Stem Cell Research - February 6, 2020 Category: Stem Cells Source Type: research

Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
Publication date: Available online 4 February 2020Source: Stem Cell ResearchAuthor(s): Berta Marcó de la Cruz, Yicheng Ding, Veronica McInerney, Janusz Krawczyk, Yin Lu, Guangming Yang, Xiaohong Qian, Weidong Li, Linda Howard, Nicholas M. Allen, Timothy O'Brien, Louise Gallagher, Sanbing ShenAbstractHundreds of rare risk factors have been identified for ASD, however, the underlying causes for ∼70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug suitability to the majority of patients. Here, we derived induced pluripotent stem cells (iPSCs) from...
Source: Stem Cell Research - February 6, 2020 Category: Stem Cells Source Type: research

Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene.
Publication date: Available online 4 February 2020Source: Stem Cell ResearchAuthor(s): Praeploy Pongpamorn, Julia Dahlmann, Alexandra Haase, Carolin Theresa Ebeling, Sylvia Merkert, Gudrun Göhring, Nico Lachmann, Andreas Martens, Axel Haverich, Ulrich Martin, Ruth OlmerAbstractLoeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor β (TGFβ) pathway, LDS is associated with a signat...
Source: Stem Cell Research - February 6, 2020 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying KIF1A c.773C>T missense mutation.
Publication date: Available online 4 February 2020Source: Stem Cell ResearchAuthor(s): Wang Xiaojing, Ma Yanyan, Duan Ruonan, Liu Xiaolin, Zhang Haiyan, Ma Jian, Liu Yi, Sun Wenjie, Liu QijiAbstractKIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound heterozygous c.773C>T(p.T258M) mutation in KIF1A gene by reprogramming peripheral blood cells with non-int...
Source: Stem Cell Research - February 6, 2020 Category: Stem Cells Source Type: research

Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg.
Publication date: Available online 4 February 2020Source: Stem Cell ResearchAuthor(s): Aleksandr Khudiakov, Kseniya Perepelina, Polina Klauzen, Anna Zlotina, Konstantin Gusev, Elena Kaznacheeva, Anna Malashicheva, Anna KostarevaAbstractHuman iPSC cell lines (FAMRCi004-A and FAMRCi004-B) were generated from patient with progressive cardiac conduction disease and sick sinus syndrome carrying DSP p.His1684Arg genetic variant. Patient-specific adipose tissue-derived mesenchymal multipotent stromal cells were reprogrammed using non-integrative Sendai viruses. Established iPSC lines showed normal karyotype, expressed pluripotent...
Source: Stem Cell Research - February 6, 2020 Category: Stem Cells Source Type: research

An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene
We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-month-old patient with NEM2 carrying compound heterozygote mutations (c.6915+1G>T, c.14910+3G>C) in NEB gene. The peripheral blood mononuclear cells (PBMCs) were reprogrammed with non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC. The established iPSC line contained the same mutations found in the patient, showed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers. (Source: Stem Cell Research)
Source: Stem Cell Research - February 4, 2020 Category: Stem Cells Source Type: research

Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNA p.Arg527Pro.
Publication date: Available online 31 January 2020Source: Stem Cell ResearchAuthor(s): Kseniya Perepelina, Polina Klauzen, Aleksandr Khudiakov, Anna Zlotina, Yulia Fomicheva, Dmitry Rudenko, Mikhail Gordeev, Alexey Sergushichev, Anna Malashicheva, Anna KostarevaAbstractMutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear c...
Source: Stem Cell Research - February 1, 2020 Category: Stem Cells Source Type: research

Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
Publication date: Available online 1 February 2020Source: Stem Cell ResearchAuthor(s): Giulia Ferrari, Francesco Muntoni, Francesco Saverio TedescoAbstractDuchenne muscular dystrophy (DMD) is the most common paediatric muscular dystrophy and is caused by mutations in the DYSTROPHIN gene. We generated two induced pluripotent stem cell (iPSC) lines from DMD patients with nonsense mutations in exons 68 (UCLi011-A) or 70 (UCLi012-A) by transfecting reprogramming mRNAs. Both mutations affect expression of all dystrophin isoforms. iPSCs expressed pluripotency-associated markers, differentiated into cells of the three germ layers...
Source: Stem Cell Research - February 1, 2020 Category: Stem Cells Source Type: research

Corrigendum to “Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3” [Stem Cell Research Vol 40 (2019) 101555]
Publication date: March 2020Source: Stem Cell Research, Volume 43Author(s): Lang He, Wei Ye, Zhao Chen, Chunrong Wang, Huifang Zhao, Shuai Li, Linliu Peng, Xiaobo Han, Tiancheng Zhou, Zhiyuan Li, Beisha Tang, Hong Jiang (Source: Stem Cell Research)
Source: Stem Cell Research - January 31, 2020 Category: Stem Cells Source Type: research

Non-invasively Enhanced Intracranial Transplantation of Mesenchymal Stem Cells Using Focused Ultrasound Mediated by Overexpression of Cell-adhesion Molecules
In this study, we demonstrated that FUS increases MSC transplantation into brain tissue by>2-fold, and that this finding might be related to the activation of intercellular adhesion molecule-1 in endothelial and subendothelial cells and vascular adhesion molecule-1 in endothelial cells.Graphical abstract (Source: Stem Cell Research)
Source: Stem Cell Research - January 30, 2020 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis
Publication date: Available online 29 January 2020Source: Stem Cell ResearchAuthor(s): Hyeyeon Park, Jinu Han, Youngsun Lee, Sungwook Kwak, Soo Kyung KooAbstractLeber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, DKHi090-A, from peripheral blood mononuclear cells (PBMCs) of a patient with LCA, by using a Sendai virus-based gene delivery system. We confirmed that DKHi090-A has a nicotinamide mononucleotide adenyltransferase 1 (NMNAT1) mutation and normal karyotype. DKHi090-A lin...
Source: Stem Cell Research - January 29, 2020 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
We describe the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of two female WD patients. Patient 1 is compound heterozygous for p.E1064A and p.H1069Q. Patient 2 is homozygous for p.M769V. These iPSCs represent a WD model for pathophysiological studies and pharmacological screening. (Source: Stem Cell Research)
Source: Stem Cell Research - January 28, 2020 Category: Stem Cells Source Type: research

YAP-depleted iPSC MUSIi012-A-2 maintained all normal stem cell characteristics
Publication date: Available online 27 January 2020Source: Stem Cell ResearchAuthor(s): Chanchao Lorthongpanich, Chuti Laowtammathron, Nittaya Jiamvoraphong, Pimonwan Srisook, Pimjai Chingsuwanrote, Phatchanat Klaihmon, Nattaya Damkham, Papussorn Terbto, Supaporn Waeteekul, Yaowalak U-pratya, Surapol IssaragrisilAbstractYes-associated protein (YAP) is an important transcriptional coactivator in the Hippo signaling pathway. Using CRISPR/Cas9 technology, we established a stable YAP-knockdown (YAP-KD) induced pluripotent stem cell (iPSC) from the MUSIi012-A cell line. The YAP-KD iPSC MUSIi012-A-2 maintained the pluripotent phe...
Source: Stem Cell Research - January 28, 2020 Category: Stem Cells Source Type: research

Establishment of SIAISi001-A, an induced pluripotent stem cell (iPSC) line from 66-year old Mild Cognitive Impairment (MCI) with two copies of APOE4 gene
Publication date: Available online 25 January 2020Source: Stem Cell ResearchAuthor(s): YI Yan, Yinghui Qiu, Aonan Zhao, Jian Zhao, Ying Wang, Yulei DengAbstractA 66-year old mild cognitive impairment (MCI) female patient donated her Peripheral blood mononuclear cells (PBMC). PBMC was reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, KLF4, SOX2 and C-MYC. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry and ability of differentiation spontaneously into 3 germ layers in vitro. Moreover, the iPSC line displayed a normal karyotype. The apolipoprotein E (...
Source: Stem Cell Research - January 26, 2020 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line (ZZUi0016-A) from dermal fibroblasts of a normal human
Publication date: Available online 25 January 2020Source: Stem Cell ResearchAuthor(s): Yuan Gao, Yanlin Wang, Zhuoya Wang, Huifang Sun, Rui Zhang, Jing Yang, Yutao Liu, Han Liu, Qi Zhang, Shoutao Zhang, Changhe Shi, Yuming Xu, Bo SongAbstractDermal fibroblasts obtained from a 43-year-old healthy man were successfully transformed into induced pluripotent stem cells (iPSCs) by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. The iPSCs showed a normal karyotype and exhibited the potential to differentiate into three germ layers in a teratoma assay, which is often used to assess the pluripotency of ...
Source: Stem Cell Research - January 25, 2020 Category: Stem Cells Source Type: research

Corrigendum to “FANCA knockout in human embryonic stem cells causes a severe growth disadvantage” [Stem Cell Res.13/2 (2014) 240-50]
Publication date: Available online 23 January 2020Source: Stem Cell ResearchAuthor(s): Kim Vanuytsel, Qing Cai, Satish Khurana, Swati Shetty, Joris R. Vermeesch, Laura Ordovas, Catherine M. Verfaillie (Source: Stem Cell Research)
Source: Stem Cell Research - January 25, 2020 Category: Stem Cells Source Type: research

Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene
Publication date: Available online 22 January 2020Source: Stem Cell ResearchAuthor(s): Xiaotong Wang, Shiming Xie, Zili Li, Zhen Ye, Xiuli Gu, Liquan Zhou, Honggang LiAbstractSertoli cell-only syndrome (SCOS) is a severe phenotype of male infertility; autosomal gene defects are thought to be the causes for this disease. The iPSC line generated from a SCOS patient carrying a mutation in PIWIL2 gene expresses pluripotent markers, has a normal karyotype and the mutation c.731_732delAT in PIWIL2 gene and is able to differentiate into three germ layers. This cell line will help to study the pathogenesis of SCOS, and the roles o...
Source: Stem Cell Research - January 22, 2020 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line (QBRIi009-A) from a patient with a heterozygous deletion of FOXA2
Publication date: Available online 21 January 2020Source: Stem Cell ResearchAuthor(s): Ahmed K. Elsayed, Maryam Aghadi, Gowher Ali, Sara Al-Khawaga, Khalid Hussain, Essam M. AbdelalimAbstractFOXA2 is a transcription factor, playing an important role during development. We established an induced pluripotent stem cell (iPSC) line, QBRIi009-A, using non-integrating Sendai virus from a 4-year-old boy, displaying a complex clinical phenotype. Molecular karyotyping and cytogenetics confirmed a de novo proximal 20p11.2 deletion with a reciprocal translocation between the short arm of chromosome 6 and 20. The deleted region (∼...
Source: Stem Cell Research - January 22, 2020 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene
Publication date: Available online 21 January 2020Source: Stem Cell ResearchAuthor(s): Bei Zhang, Yishu Wang, Jing Peng, Yong Hao, Yangtai GuanAbstractA 48-year-old female epilepsy patient of Han Chinese genetic descent carrying heterozygous mutations in PIK3R2 donated her peripheral blood mononuclear cells (PBMCs). The PBMCs were reprogrammed by the nonintegrating vector system with human OKSM transcription factors. The generated iPSCs contained congenital mutations in an exon of PIK3R2 and expressed endogenous pluripotency markers. They had a normal karyotype and were able to differentiate into all three germ layers. Thi...
Source: Stem Cell Research - January 22, 2020 Category: Stem Cells Source Type: research

Generation and characterization of a human iPSC line derived from congenital clubfoot amniotic fluid cells
Publication date: Available online 17 January 2020Source: Stem Cell ResearchAuthor(s): Jing Wang, Yazhou Cui, Kaixuan Xing, Jing Luan, Jinxiang HanAbstractA human induced pluripotent stem cell (iPSC) line (SMBCi002-A) was established from amniocytes (amniotic fluid cells, AFDCs) from a 16-week-old female fetus with clubfoot. Reprogramming and enhancing factors OCT4, SOX2, KLF4, MYC, LIN28 and EBNA1 were delivered using a nonintegrative strategy based on episomal plasmids. Validation assays indicated that this iPSC line has full pluripotency, differentiation potential and genetic stability. Currently, the etiology and mecha...
Source: Stem Cell Research - January 19, 2020 Category: Stem Cells Source Type: research

Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis
Publication date: Available online 17 January 2020Source: Stem Cell ResearchAuthor(s): Kathrin Haake, Tim Wüstefeld, Sylvia Merkert, Doreen Lüttge, Gudrun Göhring, Bernd Auber, Ulrich Baumann, Nico LachmannAbstractChronic mucocutaneous candidiasis (CMC) is a disease that is characterized by susceptibility to chronic or recurrent infections with Candida spp. due to mutations affecting mainly the IL17 signaling of T-Cells. The most common etiologies of CMC are gain-of-function (GOF) mutations in the STAT1 gene. In this paper we report the generation of a hiPSC line from a patient suffering from CMC due to a he...
Source: Stem Cell Research - January 19, 2020 Category: Stem Cells Source Type: research

NeuroCore Formation During Differentiation of Neurospheres of Mouse Embryonic Neural Stem Cells
In this study, we established a three-dimensional (3D) differentiation model of neurospheres, which produce unique neuronal clusters, termed NeuroCore (NC). NC formation was initiated by the aggregation of young neurons. Upon maturation of the neurons and the establishment of radial glia-like structures, the initial organization of the NCs transformed into a glomeruli-like arrangement of cortical neurons. These neurons expressed multiple markers of upper and deep cortical neurons. Taken together, we propose that NSCs in vitro maintain some aspects of their original in vivo tissue-organizing properties, providing an alterna...
Source: Stem Cell Research - January 19, 2020 Category: Stem Cells Source Type: research

Improved hematopoietic differentiation of mouse embryonic stem cells through manipulation of the RNA binding protein ARS2.
Publication date: Available online 18 January 2020Source: Stem Cell ResearchAuthor(s): Seerat Elahi, G. Aaron Holling, Aimee B. Stablewski, Scott H. OlejniczakAbstractThe RNA binding protein ARS2 is highly expressed in hematopoietic progenitor populations and is required for adult hematopoiesis. Recent molecular studies found that ARS2 coordinates interactions between nascent RNA polymerase II transcripts and downstream RNA processing machineries, yet how such interactions influence hematopoiesis remains largely unknown. Techniques to differentiate embryonic stem cells (ESC) to hematopoietic progenitor cells (HPC) and matu...
Source: Stem Cell Research - January 19, 2020 Category: Stem Cells Source Type: research

Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMACHC gene
Publication date: Available online 16 January 2020Source: Stem Cell ResearchAuthor(s): Jingyun Guan, Zilong Li, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Rui Dong, Zhongtao Gai, Yi LiuAbstractMethylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity. The disease is caused by the mutations in the MMACHC gene located on chromosome 1p34.1. Here we report the generation of an iPSC line from the PBMCs of a patient with compound heterozygous mutations in the MMACHC gene. This new iPSC line will al...
Source: Stem Cell Research - January 17, 2020 Category: Stem Cells Source Type: research

The mRNA-based reprogramming of fibroblasts from a SOD1E101G familial amyotrophic lateral sclerosis patient to induced pluripotent stem cell line UOWi007
Publication date: Available online 16 January 2020Source: Stem Cell ResearchAuthor(s): Rachelle Balez, Tracey Berg, Monique Bax, Sonia Sanz Muñoz, Mauricio C. Cabral-da-Silva, Martin Engel, Dzung Do-Ha, Claire H. Stevens, Dominic Rowe, Shu Yang, Ian P. Blair, Lezanne OoiAbstractDermal fibroblasts were donated by a 43 year old male patient with clinically diagnosed familial amyotrophic lateral sclerosis (ALS), carrying the SOD1E101G mutation. The induced pluripotent stem cell (iPSC) line UOWi007-A was generated using repeated mRNA transfections for pluripotency transcription factors Oct4, Klf4, Sox2, c-Myc, Lin28 and...
Source: Stem Cell Research - January 17, 2020 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and Ornithine Transcarbamylase Deficiency carrying a hemizygote mutation in OTC
Publication date: Available online 17 January 2020Source: Stem Cell ResearchAuthor(s): Xiaomeng Yang, Beibei Yan, Haiyan Zhang, Yanyan Ma, Qi Zhou, Yue Li, Jingyun Guan, Dong Wang, Yi Liu, Zhongtao GaiAbstractAn induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and Ornithine Transcarbamylase Deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original 47,XXY, and mutation in OTC, expressing pluripotency markers and bearing differentiation potential in vitro. (Source: Stem Cell Research)
Source: Stem Cell Research - January 17, 2020 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line SYSUi-003-A from a child with epilepsy carrying GRIN2A mutation
Publication date: Available online 15 January 2020Source: Stem Cell ResearchAuthor(s): Chuanbo Sun, Mingzhu Yang, Fengying Qin, Ruirui Guo, Shiqi Liang, Hao HuAbstractwe generated iPSCs from peripheral blood mononuclear cells of a child with epilepsy carrying heterozygous missense mutation in GRIN2A, using integration free episomal vectors. These iPSCs express pluripotent markers, represent a normal karyotype and have the ability to differentiate into three germ layers. (Source: Stem Cell Research)
Source: Stem Cell Research - January 16, 2020 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene
Publication date: Available online 11 January 2020Source: Stem Cell ResearchAuthor(s): Carla Azevedo, Margarita Chumarina, Evgenija Serafimova, Stefano Goldwurm, Anna Collin, Laurent Roybon, Ekaterina Savchenko, Yuriy PomeshchikAbstractHere, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in the SNCA gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated iPSC line (CSC-32) preserved the ...
Source: Stem Cell Research - January 13, 2020 Category: Stem Cells Source Type: research

Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)
Publication date: Available online 9 January 2020Source: Stem Cell ResearchAuthor(s): Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Lena Wendeburg, Doris Steinemann, Christiane Elpers, Frank Rutsch, Renate KönigAbstractAicardi-Goutières syndrome (AGS) is a hereditary early onset encephalopathy. AGS patients display variable clinical manifestations including intracranial calcification, cerebral atrophy, white matter abnormalities and characteristic leukocytosis as well as a constitutive upregulation of type I IFN production indicative of a type I interferonopathy. Sev...
Source: Stem Cell Research - January 10, 2020 Category: Stem Cells Source Type: research

Derivation of human embryonic stem cell line MUSIe001-A from an embryo with homozygous α0-thalassemia (SEA deletion)
Publication date: Available online 7 January 2020Source: Stem Cell ResearchAuthor(s): Chuti Laowtammathron, Pimjai Chingsuwanrote, Roungsin Choavaratana, Suphadtra Phornwilardsiri, Ketsara Sitthirit, Chidchanok Kaewjunun, Orawan Makemaharn, Papussorn Terbto, Supaporn Waeteekul, Chanchao Lorthongpanich, Yaowalak U-pratya, Pimonwan Srisook, Pakpoom Kheolamai, Surapol IssaragrisilAbstractMUSIe001-A cell line was derived from a Southeast Asian (SEA) type deletion α0-thalassemia embryo. The SEA deletion embryo was donated for research with informed consent. This cell line shows normal hESC morphology, expresses all plurip...
Source: Stem Cell Research - January 7, 2020 Category: Stem Cells Source Type: research

Generation of a hiPSC line ZZUNEUi007-A from a patient with hypertrophic cardiomyopathy caused by mutation in MYH7
In this study, we generated human induced pluripotent stem cells (iPSC) ZZUNEUi007-A from dermal fibroblasts of an HCM patient with the p. R663H (c. 1988G> A) mutation in MYH7. The generated hiPSC line had normal karyotype, showed robust expression of pluripotency markers and could differentiate into all three germ layers in vivo. (Source: Stem Cell Research)
Source: Stem Cell Research - January 7, 2020 Category: Stem Cells Source Type: research

The immobilization of fibronectin- and fibroblast growth factor 2-derived peptides on a culture plate supports the attachment and proliferation of human pluripotent stem cells
Publication date: Available online 7 January 2020Source: Stem Cell ResearchAuthor(s): Ahmed Abdal Dayem, Jihye Won, Hui-Gwan Goo, Gwang-Mo Yang, Dong Sik Seo, Byeong-Min Jeon, Hye Yeon Choi, Sang Eun Park, Kyung Min Lim, Seon-Ho Jang, Soo Bin Lee, Sang Baek Choi, Kyeongseok Kim, Geun-Ho Kang, Gyu-Bum Yeon, Dae-Sung Kim, Ssang-Goo ChoAbstractPluripotent stem cells (PSCs) offer a promising tool for regenerative medicine. The clinical application of PSCs inevitably requires a large-scale culture in a highly defined environment. The present study aimed to devise defined coating materials for the efficient adhesion and prolifer...
Source: Stem Cell Research - January 7, 2020 Category: Stem Cells Source Type: research

Cryopreservation of human pluripotent stem cell-derived cardiomyocytes is not detrimental to their molecular and functional properties
Publication date: Available online 7 January 2020Source: Stem Cell ResearchAuthor(s): Lettine van den Brink, Karina O. Brandão, Loukia Yiangou, Mervyn P.H. Mol, Catarina Grandela, Christine L. Mummery, Arie O. Verkerk, Richard P. DavisAbstractHuman induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) have emerged as a powerful platform for in vitro modelling of cardiac diseases, safety pharmacology, and drug screening. All these applications require large quantities of well-characterised and standardised batches of hiPSC-CMs. Cryopreservation of hiPSC-CMs without affecting their biochemical or biophysica...
Source: Stem Cell Research - January 7, 2020 Category: Stem Cells Source Type: research

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
Publication date: Available online 31 December 2019Source: Stem Cell ResearchAuthor(s): Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, Bertrand Isidor, Franck Pellestor, Jean-Marc LemaitreAbstractBloom syndrome is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The diagnosis is established on characteristic clinical features and/or presence of biallelic pathogenic variants in the BLM gene. An increased frequency of sister-chromatid exchanges is a...
Source: Stem Cell Research - January 1, 2020 Category: Stem Cells Source Type: research

Induced pluripotent stem cell line (PEIi003-A) derived from an apparently healthy male individual
Publication date: January 2020Source: Stem Cell Research, Volume 42Author(s): Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Doris Steinemann, Gudrun Göhring, Renate KönigAbstractInduced pluripotent stem cells (iPSCs) are a useful tool to investigate pathomechanistic and cellular processes due to their differentiation potential into different somatic cell types in vitro. Here, we have generated iPSCs from an apparently healthy male individual using an integration-free reprogramming method. The resulting iPSCs are pluripotent and display a normal karyotype. Furthermore, ...
Source: Stem Cell Research - December 26, 2019 Category: Stem Cells Source Type: research

Generation of a DAPK1 knockout first (conditional ready) human embryonic stem cell line (ZSSYe001-A) by CRISPR-Cas9 technology
Publication date: Available online 21 December 2019Source: Stem Cell ResearchAuthor(s): Cancan Xu, Zhuowei Zhou, Chang Liu, Xinmei Kang, Xiaofen Zhong, Qi Zhang, Yan XuAbstractDeath-associated protein kinase 1 (DAPK1) is a Ca2+/calmodulin regulated Ser/Thr kinase involved in various cellular processes including cell death, autophagy and inflammation. Its dysregulation has been linked to tumour metastasis, anti-viral responses, Alzheimer's disease and other neurological disorders. To further investigate the role of DAPK1 in these processes, we generated a DAPK1 knockout first (conditional ready) human embryonic stem (hES) c...
Source: Stem Cell Research - December 21, 2019 Category: Stem Cells Source Type: research

Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
Publication date: January 2020Source: Stem Cell Research, Volume 42Author(s): José M. Inácio, Micael Almeida, Fernando Cristo, José A. BeloAbstractHuman induced pluripotent stem cells (hiPSCs) from individual patient basis are considered a powerful resource to model human diseases. However, to study complex multigenic diseases such as Congenital Heart Disease, it is crucial to generate perfect isogenic controls to understand gene singularity and contribution. Here, we report the engendering of an isogenic hiPSC line with homozygous correction of c.455G > A alteration in the DAND5 gene, usi...
Source: Stem Cell Research - December 21, 2019 Category: Stem Cells Source Type: research

Generation of a SOX9-tdTomato reporter human iPSC line, MCRIi001-A-2, using CRISPR/Cas9 editing
Publication date: Available online 19 December 2019Source: Stem Cell ResearchAuthor(s): Yudha Nur Patria, Jinia Lilianty, Andrew G. Elefanty, Edouard G. Stanley, Tanya Labonne, John F. Bateman, Shireen R. LamandéAbstractTo develop an iPSC SOX9 reporter line for monitoring differentiation into SOX9 expressing cells such as chondrocytes, cranial neural crest and Sertoli cells, we used gene editing to introduce sequences encoding the tdTomato fluorescent protein into the SOX9 locus. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embr...
Source: Stem Cell Research - December 20, 2019 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line (NCCDFWi001-A) from a Marfan syndrome patient carrying two FBN1 variants (c.2613A>C and c.684_736+4del)
Publication date: Available online 18 December 2019Source: Stem Cell ResearchAuthor(s): Baihui Ma, Mingyao Luo, Hang Yang, Tianjiao Li, Weiwei Liu, Faxiang Xu, Chang Shu, Guokai Chen, Zhou ZhouAbstractThe human induced pluripotent stem cell line NCCDFWi001-A was derived from peripheral blood mononuclear cells (PBMC) of a 26-year-old female Marfan syndrome patient carrying two compound heterozygous variants FBN1c.2613A>C, (p.Leu871Phe) and c.684_736+4del. The established patient-derived iPSC showed expression of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and posse...
Source: Stem Cell Research - December 20, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells MMCi001-A from a Taiwanese hearing loss patient carrying GJB2 pV37I mutation
In this report, we generated an induced pluripotent stem cell (iPSC) line, MMCi001-A, from the peripheral blood mononuclear cells of a 4-year-old male hearing loss patient carrying GJB2 pV37I mutation by using the Sendai virus delivery system. The generated iPSCs were demonstrated to express pluripotent markers and be differentiated into three germ layers in vitro and in vivo. This GJB2-pV37I iPSCs is valuable for studying the pathogenic mechanisms and drug discovery of hearing loss. (Source: Stem Cell Research)
Source: Stem Cell Research - December 20, 2019 Category: Stem Cells Source Type: research

Generation and characterization of three clones (NCCSi007A, NCCSi007B and NCCSi007C) of an integration free induced Pluripotent Stem Cell line from a patient with alcoholic liver cirrhosis of Indian ethnicity
Publication date: Available online 16 December 2019Source: Stem Cell ResearchAuthor(s): Mohsina Khan, Arun Vaidyanath, Deepika Suresh, Bhumika Vaishnav, Arjun Lal Kakrani, Swapnil Patil, Anjali ShirasAbstractThree induced pluripotent stem cells (iPSC) clones NCCSi007-A, NCCSi007-B and NCCSi007-C were generated from CD4+T cells of a 38 years old male patient suffering from liver cirrhosis- alcoholic and minimal hepatic encephalopathy of Indian origin. The CD4+T cells of the patient were reprogrammed using integration free, Sendai viral vector system. Each of the three iPSC clones showed high alkaline phosphatase (ALP) activ...
Source: Stem Cell Research - December 17, 2019 Category: Stem Cells Source Type: research

Differentiation and Expansion of Endothelial Cells Requires Pre-optimization of KDR+ Expression Kinetics
Publication date: Available online 16 December 2019Source: Stem Cell ResearchAuthor(s): Basharat Jahan, Kara E. McCloskeyAbstractHuman endothelial cells (ECs) are important tools in research and development of new therapies in the fields of angiogenesis, vasculogenesis, engineering organoids and multicellular tissues, drug discovery, and disease modeling. Efficient and robust induction of ECs from human pluripotent stem cells (hPSCs) serve as a renewable and indefinite cell sources. However, individual lines of embryonic stem cells (hESCs) and induced pluripotent stem cells (iPSCs) are distinct and can often respond very d...
Source: Stem Cell Research - December 17, 2019 Category: Stem Cells Source Type: research

Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene
Publication date: Available online 12 December 2019Source: Stem Cell ResearchAuthor(s): Shen Han, Ya-yong Zhang, Ming-yao Meng, Zong-liu Hou, Ping Meng, Yi-yi Zhao, Hui Gao, Jian Tang, Zu Liu, Li-li Yang, Li-hong Jiang, Ya-xiong LiAbstractThe human induced pluripotent stem cell (iPSC) line YAHKMUi001-A was derived from the dermal fibroblasts of a patient with Tetralogy of Fallot (TOF), with a mutation in the TBX1 gene (c.928G> A). The skin fibroblasts were obtained from a 4-year-old boy, and were infected with Sendai virus expressing the Yamanaka factors. The YAHKMUi001-A iPSC line expresses pluripotent stem cell marker...
Source: Stem Cell Research - December 13, 2019 Category: Stem Cells Source Type: research

Integrative biology studies in pluripotent stem cells
Publication date: Available online 12 December 2019Source: Stem Cell ResearchAuthor(s): Miha Modic, Davide Cacchiarelli, Derk ten Berge (Source: Stem Cell Research)
Source: Stem Cell Research - December 13, 2019 Category: Stem Cells Source Type: research