Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines
Publication date: Available online 11 January 2019Source: Stem Cell ResearchAuthor(s): K.R. Valetdinova, M.A. Maretina, M.L. Kuranova, E.V. Grigor'eva, Y.M. Minina, E.A. Kizilova, A.V. Kiselev, S.P. Medvedev, V.S. Baranov, S.M. ZakianAbstractSpinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. We generated iPSCs from a SMA type I patient and SMA type II patient by using non-integrating episomal plasmid vectors. The resu...
Source: Stem Cell Research - January 12, 2019 Category: Stem Cells Source Type: research

Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line
Publication date: Available online 4 January 2019Source: Stem Cell ResearchAuthor(s): Benjamin Schmid, Kennie R. Prehn, Natakarn Nimsanor, Blanca Irene Aldana Garcia, Ulla Poulsen, Ida Jørring, Mikkel A. Rasmussen, Christian Clausen, Ulrike A. Mau-Holzmann, Sarayu Ramakrishna, Ravi Muddashetty, Rachel Steeg, Kevin Bruce, Peter Mackintosh, Andreas Ebneth, Bjørn Holst, Alfredo Cabrera-SocorroAbstractAlzheimer's disease (AD) is the most frequent neurodegenerative disease amongst the elderly. The SNPs rs429358 and rs7412 in the APOE gene are the most common risk factor for sporadic AD, and there are three differe...
Source: Stem Cell Research - January 5, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line, ICGi007-A, by reprogramming peripheral blood mononuclear cells from a patient with Huntington's disease
Publication date: Available online 2 January 2019Source: Stem Cell ResearchAuthor(s): E.V. Grigor'eva, T.B. Malankhanova, A. Surumbayeva, J.M. Minina, V.V. Morozov, Abramycheva N. Yu, S.N. Illarioshkin, A.A. Malakhova, S.M. ZakianAbstractHuntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by mutation in the HTT gene encoding HTT protein. The mutant protein leads to the neuronal death through dysregulation of multiple cellular processes. HD human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the disease study. iPSC line from HD patient with 47 CAG repeats in HT...
Source: Stem Cell Research - January 3, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene
Publication date: Available online 3 January 2019Source: Stem Cell ResearchAuthor(s): L. Auboyer, C. Monzo, D. Wallon, A. Rovelet-Lecrux, A. Gabelle, I. Gazagne, V. Cacheux, S. Lehmann, C. CrozetAbstractInduced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 50 year-old patient suffering from Alzheimer's disease and carrying a G217D causal mutation on presenilin 1 (PSEN1). iPSCs were obtained following reprogramming using the integration-free Sendai Virus system which allows expression of the Yamanaka factors. Verification of their pluripotency was achieved by demonstrating the expressi...
Source: Stem Cell Research - January 3, 2019 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis
Publication date: Available online 26 December 2018Source: Stem Cell ResearchAuthor(s): Anna Floriane Hennig, Uta Rössler, Franziska Boiti, Maja von der Hagen, Manfred Gossen, Uwe Kornak, Harald StachelscheidAbstractAutosomal recessive osteopetrosis (ARO) is a genetic bone disease that can be caused by mutations in the CLCN7 gene preventing osteoclast-mediated bone resorption. We generated a human induced pluripotent stem cell (hiPSC) line, BIHi002-A, from peripheral blood mononuclear cells of an ARO patient carrying the CLCN7 mutations c.875G>A and c.1208G>A using Sendai viral vectors. The pluripotent identity ...
Source: Stem Cell Research - December 27, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line (ZZUi0013-A) from a 65-year-old patient with a novel MEOX2 gene mutation in Alzheimer's disease
Publication date: Available online 27 December 2018Source: Stem Cell ResearchAuthor(s): Yanlin Wang, Huifang Sun, Jing Yang, Changhe Shi, Yutao Liu, Yuming Xu, Jin ZhangAbstractMEOX2 mutation has been reported as a potential cause of familial Alzheimer's disease. Recently, a novel MEOX2 mutation was identified in a family with Alzheimer's disease. The dermal fibroblasts of the patient were obtained and successfully transformed into induced pluripotent stem cells (iPSCs), employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our model may offer a good platform for further research on the pathomechanis...
Source: Stem Cell Research - December 27, 2018 Category: Stem Cells Source Type: research

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults
We describe the generation and characterization of 5 human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of healthy adult individuals. The PBMCs were reprogrammed using non-integrating Sendai viruses containing the reprogramming factors POU5F1 (OCT4), SOX2, KLF4 and MYC. The iPSC lines exhibited a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. These iPSC lines can be used as controls in studying disease mechanisms. (Source: Stem Cell Research)
Source: Stem Cell Research - December 27, 2018 Category: Stem Cells Source Type: research

Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation
Publication date: Available online 27 December 2018Source: Stem Cell ResearchAuthor(s): Soraia Martins, Martina Bohndorf, Nina Graffmann, Wasco Wruck, Krystyna H. Chrzanowska, James AdjayeAbstractHuman fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous NBN c.657_661del5 mutation were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. The derived iPSC line – ISRM-NBS1 was defined as pluripotent based on (i) expression of pluripotency-associated marke...
Source: Stem Cell Research - December 27, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene
Publication date: Available online 26 December 2018Source: Stem Cell ResearchAuthor(s): Rong Li, Amanda Baskfield, Yongshun Lin, Jeanette Beers, Jizhong Zou, Chengyu Liu, Fabrice Jaffré, Amy E. Roberts, Elizabeth A. Ottinger, Maria I. Kontaridis, Wei ZhengAbstractNoonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. A human induced pluripotent stem cell (iPSC) line was generated using peripheral blood mononuclear...
Source: Stem Cell Research - December 26, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene
Publication date: Available online 26 December 2018Source: Stem Cell ResearchAuthor(s): Nadja Gustavsson, Ana Marote, Yuriy Pomeshchik, Kaspar Russ, Carla Azevedo, Margarita Chumarina, Stefano Goldwurm, Anna Collin, Luisa Pinto, António J. Salgado, Oxana Klementieva, Laurent Roybon, Ekaterina SavchenkoAbstractMutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-bas...
Source: Stem Cell Research - December 26, 2018 Category: Stem Cells Source Type: research

Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene
In this study, specific pathogenic mutations in the APP gene were introduced into an iPSC line from a healthy individual by the use of CRISPR-Cas9. The study resulted in the generation of two new cell lines, one carrying the V717I APP mutation and one with the KM670/671NL APP mutation. (Source: Stem Cell Research)
Source: Stem Cell Research - December 25, 2018 Category: Stem Cells Source Type: research

Establishment of an ectodermal dysplasia related gene EDA Knockout human embryonic stem cell line (WAe001-A-22) by CRISPR-Cas9 technology
Publication date: Available online 21 December 2018Source: Stem Cell ResearchAuthor(s): Yanting Xue, Baojian Liao, Yingjun Xie, Shaoying Li, Xiaoyan Ma, Xiaofang SunAbstractEDA is a gene located at Xq13.1. It encodes different isoforms of tumor necrosis factor (TNF) superfamily member ectodysplasin A. Ectodysplasin A is a transmembrane protein which can be cleaved to form a secreted form and interact with EDA receptor to mediate the development of ectoderm. Mutations of the EDA gene are related to ectodermal dysplasia and tooth agenesis. Here, we report the establishment of the EDA gene knockout human embryonic stem (hES) ...
Source: Stem Cell Research - December 22, 2018 Category: Stem Cells Source Type: research

Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus
Publication date: Available online 21 December 2018Source: Stem Cell ResearchAuthor(s): Stefanie Schuster, Srinethe Saravanakumar, Ludger Schöls, Stefan HauserAbstractSTUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Missense and truncating mutations in STUB1 lead to SCAR16. For ideal in vitro disease modelling with isogenic controls, we generated a CHIP knockout cell line from a healthy control with no CHIP functionality, but remaining genomic integrity and verified pluripotency. (Source: Stem Cell Research)
Source: Stem Cell Research - December 22, 2018 Category: Stem Cells Source Type: research

Generation of seven induced pluripotent stem cell lines from neonates of different ethnic backgrounds
Publication date: Available online 20 December 2018Source: Stem Cell ResearchAuthor(s): Yingnan Yin, Andrew J. Petersen, Cheryl Soref, William D. Richards, Tenneille Ludwig, Seth Taapken, Erich Berndt, Su-Chun Zhang, Anita BhattacharyyaAbstractSeven human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts from three neonatal individuals using non-integrative reprogramming. Most control iPSCs are derived from adults, so these iPSCs meet the need for control iPSCs from young individuals. Donors were from different ethnicities and these lines provide unique genetic profiles. All iPSCs have normal karyo...
Source: Stem Cell Research - December 20, 2018 Category: Stem Cells Source Type: research

Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication
Publication date: Available online 18 December 2018Source: Stem Cell ResearchAuthor(s): A.A. Khabarova, I.E. Pristyazhnyuk, T.V. Nikitina, T.A. Gayner, N.B. Torkhova, N.A. Skryabin, A.A. Kashevarova, N.P. Babushkina, Zh.G. Markova, M.E. Minzhenkova, L.P. Nazarenko, N.V. Shilova, A.R. Shorina, I.N. Lebedev, O.L. SerovAbstractSkin fibroblasts from a patient with mental retardation and chromosome 2p25.3 deletion syndrome were reprogrammed into induced pluripotent stem cells (iPSCs) and the clonal stem cell line ICAGi001-A (iTAF9-11) was established. ICAGi001-A pluripotency was demonstrated in vitro by three germ layer differe...
Source: Stem Cell Research - December 19, 2018 Category: Stem Cells Source Type: research

Generation of an integration-free iPSC line(SYSUi001-A) from a sporadic Alzheimer's disease patient
Publication date: Available online 18 December 2018Source: Stem Cell ResearchAuthor(s): Rui Wei, Hongying Han, Ye Mingxin, He Lu, Qingfeng Lei, Tiancheng Zhou, Xiujuan Cai, Li ZhongAbstractHuman iPSC line, iPSC-ADM01(SYSUi001-A), was generated from a 70-year-old male patient with sporadic Alzheimer's disease, using non-integrative reprogramming method. This cell line shows pluripotency both in vitro and in vivo, and has a normal karyotype. (Source: Stem Cell Research)
Source: Stem Cell Research - December 19, 2018 Category: Stem Cells Source Type: research

Generation of four iPSC lines from peripheral blood mononuclear cells (PBMCs) of an attention deficit hyperactivity disorder (ADHD) individual and a healthy sibling in an Australia-Caucasian family
Publication date: Available online 19 December 2018Source: Stem Cell ResearchAuthor(s): Janette Tong, Kyung Min Lee, Xiaodong Liu, Christian M. Nefzger, Prasidhee Vijayakumar, Ziarih Hawi, Ken C. Pang, Clare L. Parish, Jose M. Polo, Mark A. BellgroveAbstractPeripheral blood mononuclear cells were donated by a male teenager with clinically diagnosed attention deficit hyperactivity disorder (ADHD) under the Diagnostic and Statistical Manual of Mental Disorders IV criteria and his unaffected male sibling. Induced pluripotent stem cells were developed using integration-free Sendai Reprogramming factors containing OCT4, SOX2, K...
Source: Stem Cell Research - December 19, 2018 Category: Stem Cells Source Type: research

Derivation of iPSC lines from two patients with familial Alzheimer's disease from India
In this study, we report a detailed characterization of two representative HiPSC lines from a well-characterized dementia cohort from India. Availability of these lines, and associated molecular and clinical information, would be useful in detailed exploration of the genomic contribution(s) to AD. (Source: Stem Cell Research)
Source: Stem Cell Research - December 19, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell lines from two Neuroblastoma patients carrying a germline ALK R1275Q mutation
Publication date: Available online 18 December 2018Source: Stem Cell ResearchAuthor(s): Ana Marin Navarro, Kelly Day, Per Kogner, Margareta Wilhelm, Anna FalkAbstractNeuroblastoma (NB) is an embryonic tumor of the peripheral nervous system and one of the most common solid cancers in infants. Mutations in the Anaplastic lymphoma tyrosine kinase (ALK) gene are common in NB. To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus. The iPS cells are grown in a feeder- and ...
Source: Stem Cell Research - December 18, 2018 Category: Stem Cells Source Type: research

Generation of NERCe003-A-3, a p53 compound heterozygous mutation human embryonic stem cell line, by CRISPR/Cas9 editing
Publication date: Available online 17 December 2018Source: Stem Cell ResearchAuthor(s): Yingkang Li, Chuan Huang, Lagabaiyila Zha, Mingyue Kong, Qiaohui Yang, Yinghong Zhu, Yingying Peng, Qi Ouyang, Guangxiu Lu, Ge Lin, Di ZhouAbstractp53 is a tumor suppressor gene involved mainly in the regulation of the G1/S cell cycle phase, DNA repair, and senescence. Although p53 is frequently altered in human cancer, the consequences of its depletion in human embryonic stem cells (hESCs) are unknown. We generated NERCe003-A-3, a p53 knockout hESC line, from the normal NERCe003-A hESC line by using CRISPR/Cas9 editing. This cell line ...
Source: Stem Cell Research - December 17, 2018 Category: Stem Cells Source Type: research

An integration-free iPSC line (MUSIi008-A) derived from a patient with severe hemolytic anemia carrying compound heterozygote mutations in KLF1 gene for disease modeling
Publication date: Available online 14 December 2018Source: Stem Cell ResearchAuthor(s): Ponthip Potirat, Methichit Wattanapanitch, Vip Viprakasit, Pakpoom Kheolamai, Surapol IssaragrisilAbstractWe generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMNCs) isolated from a 1-year old female carrying compound heterozygote for KLF1 mutations (G176RfsX179 and A298P mutations). Non-integrating Sendai viral (SeV) vectors containing KOS, hc-MYC and hKLF4 were used for reprogramming. The established MUSIi008-A cell line contained the same mutations found in the patient, expressed pluripo...
Source: Stem Cell Research - December 15, 2018 Category: Stem Cells Source Type: research

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient
Publication date: Available online 14 December 2018Source: Stem Cell ResearchAuthor(s): Elena Daoutsali, Ronald A.M. Buijsen, Simone van de Pas, Anke't Jong, Harald Mikkers, Tom Brands, Bert Eussen, Annelies de Klein, Linda M. van der Graaf, Barry A. Pepers, Christian Freund, Gisela M. Terwindt, Valeria Orlova, Willeke M.C. van Roon-MomAbstractHereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant hereditary disease caused by a point mutation in exon 17 of the APP gene. We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic HCHWA-D patient by using non-integrati...
Source: Stem Cell Research - December 15, 2018 Category: Stem Cells Source Type: research

Establishment of an induced pluripotent stem cell line (FDEENTi001-A) from a patient with pathological myopia
Publication date: Available online 14 December 2018Source: Stem Cell ResearchAuthor(s): Xinyue Bai, Xianjie Yang, Yun Cheng, Ling ChenAbstractPathological myopia (PM) is a retinal degenerative disease with an increasing prevalence in Asia. The peripheral blood mononuclear cells (PBMCs) from a patient with PM were successfully reprogrammed to induced pluripotent stem cells (iPSCs) using integration-free method, Sendai viral (SeV) vectors expressing OCT4, SOX2, KLF4 and C-MYC. This line may provide a useful resource for exploring the pathogenesis of PM. (Source: Stem Cell Research)
Source: Stem Cell Research - December 15, 2018 Category: Stem Cells Source Type: research

Sufficiency of hypoxia-inducible 2-oxoglutarate dioxygenases to block chemical oxidative stress-induced differentiation of human embryonic stem cells
Publication date: Available online 12 December 2018Source: Stem Cell ResearchAuthor(s): Eirini Koutsouraki, Steve Pells, Paul A. De SousaAbstractHypoxia benefits undifferentiated pluripotent stem cell renewal, and 2-oxoglutarate (2OG) dioxygenases have been implicated in pluripotent stem cell induction and renewal. We show in human embryonic stem cells (hESC) that an ambient oxygen-induced oxidative stress response elicited by culture in a hypoxic atmosphere (0.5% O2) correlates with the expression of 2OG dioxygenases, which oxidise DNA (TET1, 2, 3) and histone H3 (KDM4C), the former reflected by elevation in genomic 5-hyd...
Source: Stem Cell Research - December 12, 2018 Category: Stem Cells Source Type: research

Establishment of human embryonic stem cell line Amicqui-2 using poor-quality embryos from Mexican population
Publication date: Available online 10 December 2018Source: Stem Cell ResearchAuthor(s): Daniela Ávila-González, Omar Alarcón-Martínez, Guadalupe García-López, Néstor Emmanuel Díaz-Martínez, Guadalupe Razo-Aguilera, María Yolotzin Valdespino-Vázquez, Elsa Romelia Moreno-Verduzco, Eva Vega-Hernández, Juan Carlos Regalado-Hernández, Julio Francisco De la Jara-Díaz, Anayansi Molina-Hernández, Héctor Flores-Herrera, Wendy Portillo, Néstor Fabián DíazAbstractAlthough investigation with human embryo...
Source: Stem Cell Research - December 11, 2018 Category: Stem Cells Source Type: research

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene
Publication date: Available online 10 December 2018Source: Stem Cell ResearchAuthor(s): Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. FrenchAbstractSpinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord. SCA2 is caused by spontaneous misfolding and aggregate formation from abnormal CAG trinucleotide repeat expansion in the coding region of the ATXN2 gene (Antenora et al., 2017; Pulst et al., 1996). Here we describe the generation of two distinct i...
Source: Stem Cell Research - December 11, 2018 Category: Stem Cells Source Type: research

Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-13
Publication date: Available online 10 December 2018Source: Stem Cell ResearchAuthor(s): Takeshi Niki, Keiko Imamura, Takako Enami, Masako Kinoshita, Haruhisa InoueAbstractAngelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally expressed E3 ubiquitin ligase UBE3A. We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion of maternal 15q11.2-13 including UBE3A gene. The generated iPSC line showed pluripotency markers and the ability of in vitro differentiation into three-germ layer. FISH analysis and methylation-specific PC...
Source: Stem Cell Research - December 11, 2018 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier
We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)). A second line, LEIi009-A, was generated from a related non-penetrant carrier of the same mutation with no retinal disease. Reprogramming of patient dermal fibroblasts using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA generated cell lines displaying pluripotent stem cell marker expression, a normal karyotype and the capability to differentiate into the three germ la...
Source: Stem Cell Research - December 10, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
Publication date: Available online 5 December 2018Source: Stem Cell ResearchAuthor(s): Rong Li, Manisha Pradhan, Miao Xu, Amanda Baskfield, Atena Farkhondeh, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matt Might, Steven Rodems, Wei ZhengAbstractNGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p.Q208X variant (c.622C > T) i...
Source: Stem Cell Research - December 6, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell cohort suitable to investigate sporadic Alzheimer's Disease
Publication date: Available online 5 December 2018Source: Stem Cell ResearchAuthor(s): David C. Schöndorf, Myriam Elschami, Maximilian Schieck, Ebru Ercan-Herbst, Christian Weber, Yasmin Riesinger, Sara Kalman, Doris Steinemann, Dagmar E. EhrnhoeferAbstractAlzheimer's Disease (AD) is the major cause of dementia in the elderly, and cortical neurons differentiated from patient-derived induced pluripotent stem cells (iPSCs) can recapitulate disease phenotypes such as tau phosphorylation or amyloid beta (Aß) deposition. Here we describe the generation of an iPSC cohort consisting of 2 sporadic AD cases and 3 control...
Source: Stem Cell Research - December 6, 2018 Category: Stem Cells Source Type: research

Generation of a heterozygous p53 R249S mutant human embryonic stem cell line by TALEN-mediated genome editing
Publication date: Available online 30 November 2018Source: Stem Cell ResearchAuthor(s): Zijun Huo, Jian Tu, An Xu, Li Yan, Donghui Wang, Mo Liu, Ruoji Zhou, Dandan Zhu, Yu Lin, Julian A. Gingold, Chia-Jui Yen, Haipeng Xiao, Ruiying ZhaoAbstractAs one of the most essential genome guardians, p53 and its mutants have been suggested associated with many types of cancers. Many p53 mutants function induce unique phenotypes, including carcinogenesis, metastasis, and drug resistance. The p53(R249S) mutation is the most prevalent and specific mutation associated with liver cancer development. Here, we demonstrate the generation of ...
Source: Stem Cell Research - December 1, 2018 Category: Stem Cells Source Type: research

Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy
We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endoderm...
Source: Stem Cell Research - December 1, 2018 Category: Stem Cells Source Type: research

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)
Publication date: Available online 27 November 2018Source: Stem Cell ResearchAuthor(s): Ying-qian Lu, En-lin Dong, Wei-qi Yang, Lu-lu Lai, Xiao-hong Lin, Li-xiang Ma, Wan-jin Chen, Ning Wang, Xiang LinAbstractThe human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C > T) mutations in the CAPN1 gene, was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC. The established hiPS-SPG76 was free of genomically integrated ...
Source: Stem Cell Research - November 28, 2018 Category: Stem Cells Source Type: research

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
Publication date: Available online 28 November 2018Source: Stem Cell ResearchAuthor(s): Edouard Baulier, Alejandro Garcia Diaz, Barbara Corneo, Debora B. FarberAbstractOcular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to s...
Source: Stem Cell Research - November 28, 2018 Category: Stem Cells Source Type: research

Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln
Publication date: Available online 28 November 2018Source: Stem Cell ResearchAuthor(s): Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Melissa Mangala, Adam Hill, Henrietta Cserne Szappanos, Livia Hool, Christopher SemsarianAbstractHypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy characterized by left ventricular hypertrophy ≥15 mm in the absence of loading conditions. HCM has a prevalence of up to one in 200, and can result in significant adverse outcomes including heart failure and sudden cardiac death. An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear...
Source: Stem Cell Research - November 28, 2018 Category: Stem Cells Source Type: research

Establishment of TUSMi007-A, an induced pluripotent stem cell (iPSC) line from an 83-year old Chinese Han patient with Alzheimer's disease (AD)
Publication date: Available online 28 November 2018Source: Stem Cell ResearchAuthor(s): Ying Wang, Jing Zhang, Ying Lei, Jian ZhaoAbstractAn 83-year old Alzheimer's disease (AD) 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 karyotype. Our model might offer ...
Source: Stem Cell Research - November 28, 2018 Category: Stem Cells Source Type: research

Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13
Publication date: Available online 20 November 2018Source: Stem Cell ResearchAuthor(s): T.V. Nikitina, A.G. Menzorov, A.A. Kashevarova, M.M. Gridina, A.A. Khabarova, S. Yakovleva Yu, M.E. Lopatkina, I.E. Pristyazhnyuk, S.A. Vasilyev, O.L. Serov, I.N. LebedevAbstractSkin fibroblasts from a patient with neurodevelopmental and speech delay, anxiety disorder, macrocephaly, microorchidism, multiple anomalies of internal organs and ring chromosome 13 were reprogrammed into induced pluripotent stem cells (iPSCs) to generate a clonal stem cell line IMGTi003-A (iTAF6-6). IMGTi003-A pluripotency was demonstrated by three germ layer ...
Source: Stem Cell Research - November 21, 2018 Category: Stem Cells Source Type: research

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease
Publication date: Available online 18 November 2018Source: Stem Cell ResearchAuthor(s): Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike UlmerAbstractGaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuronopathic forms of Gaucher disease. The donor for line iPSC-GBA-1, a 21 month old girl, carried the recurring GBA mutation c.1448 T > C, p...
Source: Stem Cell Research - November 19, 2018 Category: Stem Cells Source Type: research

Generation of human iPSCs from human prostate cancer-associated fibroblasts IBPi002-A
Publication date: Available online 16 November 2018Source: Stem Cell ResearchAuthor(s): Zuzana Kahounová, Eva Slabáková, Lucia Binó, Ján Remšík, Radek Fedr, Jan Bouchal, Daniela Kurfűrstová, Radek Vrtěl, Vladimír Študent, Lucie Jurečková, Volodymyr Porokh, Aleš Hampl, Karel SoučekAbstractA human induced pluripotent stem cell line was generated from cancer-associated fibroblasts of a 68-years old patient with diagnosed prostate adenocarcinoma (PCa). The fibroblast cell line was reprogrammed with Epi5™ Episomal iPSC Reprogramming Ki...
Source: Stem Cell Research - November 16, 2018 Category: Stem Cells Source Type: research

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2
Publication date: Available online 16 November 2018Source: Stem Cell ResearchAuthor(s): Carla Sanjurjo-Soriano, Nejla Erkilic, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki KalatzisAbstractWe generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a patient with Usher syndrome type 2 (USH2). This individual was homozygous for the most prevalent variant reported in the USH2A gene, c.2299delG localized in exon 13. Reprogramming was performed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail under feeder-fr...
Source: Stem Cell Research - November 16, 2018 Category: Stem Cells Source Type: research

Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
Publication date: Available online 16 November 2018Source: Stem Cell ResearchAuthor(s): Sofia M. Calado, Ana B. Garcia-Delgado, Berta de la Cerda, Beatriz Ponte-Zuñiga, Shom S. Bhattacharya, Francisco J. Díaz-CorralesAbstractRetinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a heterozygous double mutation in EYS gene was generated by non-integrative reprogramming technology, using hOCT3/4, hSOX2, hc-MYC and hKLF4 rep...
Source: Stem Cell Research - November 16, 2018 Category: Stem Cells Source Type: research

Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK
Publication date: Available online 16 November 2018Source: Stem Cell ResearchAuthor(s): Ana Artero Castro, Kathleen Long, Andrew Bassett, Candela Machuca Arellano, Marian León, Almudena Ávila-Fernandez, Marta Cortón, Toni Vidal-Puig, Carmen Ayuso, Dunja Lukovic, Slaven ErcegAbstractThe human induced pluripotent stem cell (hiPSC) line RP1-FiPS4F1 generated from the patient with autosomal recessive retinitis pigmentosa (arRP) caused by homozygous Ser331Cysfs*5 mutation in Mer tyrosine kinase receptor (MERTK) was genetically corrected using CRISPR/Cas9 system. Two isogenic hiPSCs lines, with heterozygous ...
Source: Stem Cell Research - November 16, 2018 Category: Stem Cells Source Type: research

Induction of rod versus cone photoreceptor-specific progenitors from retinal precursor cells
Publication date: Available online 13 November 2018Source: Stem Cell ResearchAuthor(s): Saeed Khalili, Brian G. Ballios, Justin Belair-Hickey, Laura Donaldson, Jeff Liu, Brenda L.K. Coles, Kenneth N. Grisé, Tahani Baakdhah, Gary D. Bader, Valerie A. Wallace, Gilbert Bernier, Molly S. Shoichet, Derek van der KooyAbstractDuring development, multipotent progenitors undergo temporally-restricted differentiation into post-mitotic retinal cells; however, the mechanisms of progenitor division that occurs during retinogenesis remain controversial. Using clonal analyses (lineage tracing and single cell cultures), we identify...
Source: Stem Cell Research - November 14, 2018 Category: Stem Cells Source Type: research

WDR68 is essential for the transcriptional activation of the PRC1-AUTS2 complex and neuronal differentiation of mouse embryonic stem cells
Publication date: Available online 12 November 2018Source: Stem Cell ResearchAuthor(s): Qiang Wang, Zhuangzhuang Geng, Yi Gong, Kaitlyn Warren, Haiyan Zheng, Yuka Imamura, Zhonghua GaoAbstractRecent studies on Polycomb repressive complexes (PRC) reveal a surprising role in transcriptional activation, yet the underlying mechanism remains poorly understood. We previously identified a type 1 PRC (PRC1) that contains Autism Susceptibility Candidate 2 (AUTS2), which positively regulates transcription of neuronal genes. However, the mechanism by which the PRC1-AUTS2 complex influences neurodevelopment is unclear. Here we demonst...
Source: Stem Cell Research - November 12, 2018 Category: Stem Cells Source Type: research

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
Publication date: Available online 10 November 2018Source: Stem Cell ResearchAuthor(s): Carla Sanjurjo-Soriano, Nejla Erkilic, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki KalatzisAbstractWe generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail. The generated cell...
Source: Stem Cell Research - November 11, 2018 Category: Stem Cells Source Type: research

Limbal epithelial stem cell activity and corneal epithelial cell cycle parameters in adult and aging mice
In this study, labelling with thymidine analogues, 5-iodo-2′-deoxyuridine (IdU), 5-chloro-2′-deoxyuridine (CldU) and 5-ethynyl-2′-deoxyuridine (EdU), was used to estimate cell-cycle time of the corneal and limbal epithelia in wild-type eyes, comparing aging (12 months) and young adult (8 week) mice. In C57BL/6 mice, cells cycled significantly faster in the central corneal epithelium of aging eyes (3.24 ± 0.2 days) compared to 10 week old mice (4.97 ± 0.5 days). Long-term labelling with IdU was used to detect slow-cycling stem cells, followed by CldU or EdU labelling to quan...
Source: Stem Cell Research - November 6, 2018 Category: Stem Cells Source Type: research

Dynamic blebbing: A bottleneck to human embryonic stem cell culture that can be overcome by Laminin-Integrin signaling
This study characterizes dynamic and apoptotic blebbing in human embryonic stem cells (hESC), identifies dynamic blebbing as a bottleneck to successful cell attachment during passaging, and demonstrates that dynamic blebbing can be rapidly stopped by plating cells on recombinant human laminin. In freshly plated hESC, dynamic and apoptotic blebbing differed in time of occurrence, bleb retraction rate, mitochondrial membrane potential, and caspase 3&7 activation. While dynamic blebbing can be controlled with drugs that inhibit myosin II, these methods have off-target effects and are not suitable for clinical applications...
Source: Stem Cell Research - November 3, 2018 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient
In conclusion, we have successfully generated and characterized, for the first time to our knowledge, two human iPSCs lines from a MPSIIIB donor homozygous for the P358L NAGLU mutation. The new lines will complement the existing murine MPS IIIB model, with their potential to be used in a development of a purely human in vitro model of the disease. (Source: Stem Cell Research)
Source: Stem Cell Research - November 3, 2018 Category: Stem Cells Source Type: research

A20 deficiency in multipotent progenitors perturbs quiescence of hematopoietic stem cells
Publication date: Available online 31 October 2018Source: Stem Cell ResearchAuthor(s): Masahiro Marshall Nakagawa, Harry Davis, Chozha Vendan RathinamAbstractInflammatory signals have been shown to play a critical role in controlling the maintenance and functions of hematopoietic stem cells (HSCs). While the significance of inflammation in hematopoiesis has begun to unfold, molecular mechanisms and players that govern this mode of HSC regulation remain largely unknown. The E3 ubiquitin ligase A20 has been considered as a central gatekeeper of inflammation. Here, we have specifically depleted A20 in multi-potent progenitors...
Source: Stem Cell Research - October 31, 2018 Category: Stem Cells Source Type: research

Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene
Publication date: Available online 29 October 2018Source: Stem Cell ResearchAuthor(s): Osele Ciampi, Elena Romano, Ariela Benigni, Susanna TomasoniAbstractFocal Segmental Glomerulosclerosis (FSGS) is the typical renal histologic lesion in familial steroid-resistant nephrotic syndrome, for which there is currently no treatment. Dysfunction of the glomerular podocyte, a specialized cell that forms the glomerular filtration barrier, is central in the pathogenesis of FSGS. Here, we reported the generation of two isogenic iPS cell lines from a patient affected by FSGS, carrying the c.565G > A mutation in the PAX2 gene. T...
Source: Stem Cell Research - October 30, 2018 Category: Stem Cells Source Type: research