Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene
Publication date: Available online 20 March 2019Source: Stem Cell ResearchAuthor(s): Berta de la Cerda, Andrea Díez-Lloret, Beatriz Ponte, Laura Vallés-Sáiz, Sofia M. Calado, Eduardo Rodríguez-Bocanegra, Ana B. Garcia-Delgado, Marina Moya-Molina, Shom S. Bhattacharya, Francisco J. Díaz-CorralesAbstractPRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retinitis pigmentosa. A blood sample was obtaine...
Source: Stem Cell Research - March 21, 2019 Category: Stem Cells Source Type: research

Corrigendum to “Generation of human induced pluripotent stem cell lines (hiPSC) from one bipolar disorder patient carrier of a DGKH risk haplotype and one non-risk-variant-carrier bipolar disorder patient” [Stem Cell Res. 2018 Oct;32:104–109. doi: 10.1016/j.scr.2018.09.008. Epub 2018 Sep 17]
Publication date: Available online 18 March 2019Source: Stem Cell ResearchAuthor(s): V.S. Palladino, N.O.C. Subrata, A. Geburtig-Chiocchetti, R. McNeill, P. Hoffmann, A. Reif, S. Kittel-Schneider (Source: Stem Cell Research)
Source: Stem Cell Research - March 20, 2019 Category: Stem Cells Source Type: research

Alterations in genetic and protein content of swine adipose tissue-derived mesenchymal stem cells in the metabolic syndrome
Publication date: Available online 18 March 2019Source: Stem Cell ResearchAuthor(s): Aditya S. Pawar, Alfonso Eirin, James D. Krier, John R. Woollard, Xiang-Yang Zhu, Amir Lerman, Andre J. van Wijnen, Lilach O. LermanAbstractIntroductionMesenchymal stem cells (MSCs) possess endogenous reparative properties and may serve as an exogenous therapeutic intervention in patients with chronic kidney disease. Cardiovascular risk factors clustering in the metabolic syndrome (MetS) might adversely affect cellular properties. To test the hypothesis that Mets interferes with MSC characteristics, we performed comprehensive comparison of...
Source: Stem Cell Research - March 18, 2019 Category: Stem Cells Source Type: research

Potential therapeutic roles of stem cells in ischemia-reperfusion injury
Publication date: Available online 16 March 2019Source: Stem Cell ResearchAuthor(s): M. Barzegar, G. Kaur, F.N.E. Gavins, Y. Wang, C. Boyer, J.S. AlexanderAbstractIschemia-reperfusion injury (I/RI), produced by an initial interruption of organ blood flow and its subsequent restoration, contributes significantly to the pathophysiologies of stroke, myocardial infarction, renal I/RI, intestinal I/RI and liver I/RI, which are major causes of disability (including transplant failure) and even mortality. While the restoration of blood flow is required to restore oxygen and nutrient requirements, reperfusion often triggers local ...
Source: Stem Cell Research - March 16, 2019 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene
Publication date: Available online 16 March 2019Source: Stem Cell ResearchAuthor(s): Samuel McLenachan, Elaine Y.M. Wong, Xiao Zhang, Fiona Leith, Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Terri McLaren, Tina Lamey, John N. De Roach, Marcus D. Atlas, Rodney J. Dilley, Fred K. ChenAbstractThe human iPSC lines LEIi010-A and LEIi010-B were generated from the dermal fibroblasts of a patient with Usher syndrome using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. These iPSC lines carry compound heterozygous mutations (c.949C > A and c.1256G &g...
Source: Stem Cell Research - March 16, 2019 Category: Stem Cells Source Type: research

Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A
Publication date: Available online 12 March 2019Source: Stem Cell ResearchAuthor(s): María del Carmen Ortuño-Costela, Victoria Cerrada, Marta García-López, Joaquín Arenas, Jesús Martínez, Alejandro Lucia, Rafael Garesse, M. Esther GallardoAbstractA mouse iPSC line, IISHDOi005-A, generated from fibroblasts obtained from a mouse C57BL/6J with an age of 1 year and a half, has been obtained. For this purpose, reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus. (Source: Stem Cell Research)
Source: Stem Cell Research - March 14, 2019 Category: Stem Cells Source Type: research

Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B
Publication date: Available online 8 March 2019Source: Stem Cell ResearchAuthor(s): Sabine Jung-Klawitter, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Thomas OpladenAbstractSkin fibroblasts were isolated from a male patient with DNAJC12 deficiency and reprogrammed to iPSCs using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Two clones, DHMCi003-A and DHMCi003-B, were characterized for expression of pluripotency marker genes (Oct4, Nanog, Lin28, SSEA-4, TRA-1-60) and differentiated into all three germ layers using embryoid body (EB) formation. Karyotype of both clones was n...
Source: Stem Cell Research - March 9, 2019 Category: Stem Cells Source Type: research

Generation and characterization of a human induced pluripotent stem cell (iPSC) line (HEBHMUi001-A) from a sporadic Parkinson's disease patient
Publication date: Available online 7 March 2019Source: Stem Cell ResearchAuthor(s): Jun Ma, Ruiyun Guo, Yongzhou Song, Jing Zhang, Baofeng Feng, Asiamah Ernest Amponsah, Desheng Kong, Jingjing He, Wei Zhang, Aijing Liu, Lin Wei, Sanbing Shen, Timothy O'Brien, Huixian CuiAbstractWe generated a human induced pluripotent stem cell (iPSC) line from the skin fibroblasts of a 62-year-old female patient clinically diagnosed with sporadic Parkinson's disease (PD). The generated iPSCs maintained their normal karyotype, expressed pluripotency stem cell markers, and were demonstrated to be capable of differentiating into cells repres...
Source: Stem Cell Research - March 8, 2019 Category: Stem Cells Source Type: research

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a long QT syndrome type 1 patient carrier of two common variants in the NOS1AP gene
Publication date: Available online 6 March 2019Source: Stem Cell ResearchAuthor(s): Manuela Mura, Federica Pisano, Manuela Stefanello, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Paul A. Brink, Massimiliano GnecchiAbstractWe generated human induced pluripotent stem cells (hiPSCs) from a symptomatic Long QT Syndrome (LQTS) type 1 patient, belonging to a South African (SA) founder population segregating the heterozygous mutation c.1022C > T p.A341V on the KCNQ1 gene. The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the N...
Source: Stem Cell Research - March 8, 2019 Category: Stem Cells Source Type: research

Generation of two iPSC lines (ICGi008-A and ICGi008-B) from skin fibroblasts of a patient with early-onset Alzheimer's disease caused by London familial APP mutation (V717I)
Publication date: Available online 2 March 2019Source: Stem Cell ResearchAuthor(s): E.V. Grigor'eva, T.B. Malankhanova, E.I. Ustyantseva, J.M. Minina, O.E. Redina, V.V. Morozov, A.I. Shevela, S.M. Zakian, S.P. MedvedevAbstractThe induced pluripotent stem cell (iPSC) lines ICGi008-A and ICGi008-B were generated from dermal fibroblasts using episomal vectors expressing pluripotency factors. Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient carrying heterozygous V717I mutation in the APP gene. The generated iPSC lines maintained the original APP genotype, expressed...
Source: Stem Cell Research - March 4, 2019 Category: Stem Cells Source Type: research

Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1
In this study, we generated human induced pluripotent stem cells (iPSCs) from dermal fibroblasts of an MFS patient with the p. E2130K (c. 6388G > A) mutation. The generated hiPSC line had a normal karyotype, showed robust expression of pluripotency markers and was able to differentiate into all three germ layers in vivo. This cell line can provide a platform for understanding the pathogenic mechanisms of MFS related to FBN1 mutations.Resource table.Unique stem cell identifierCMUi001-AAlternative name(s) of stem cell lineFBN1-E2130K-iPSCInstitutionAnzhen Hospital, Capital Medical UniversityContact information of dist...
Source: Stem Cell Research - February 28, 2019 Category: Stem Cells Source Type: research

Corrigendum to Establishment of TUSMi005-A, an induced pluripotent stem cell (iPSC) line from a 32-year old Chinese Han patient with Bipolar Disorder (BD). Stem Cell Research 33(2018) 65–68
Publication date: Available online 27 February 2019Source: Stem Cell ResearchAuthor(s): Jian Zhao (Source: Stem Cell Research)
Source: Stem Cell Research - February 28, 2019 Category: Stem Cells Source Type: research

Generation of two transgene-free human iPSC lines from CD133+ cord blood cells
Publication date: Available online 28 February 2019Source: Stem Cell ResearchAuthor(s): Estibaliz Arellano-Viera, Lorea Zabaleta, Julio Castaño, Garikoitz Azkona, Xonia Carvajal-Vergara, Alessandra GiorgettiAbstractWe have generated two human induced pluripotent stem cell (iPSC) lines from CD133+ cells isolated from umbilical cord blood (CB) of a female child using non-integrative Sendai virus. Here we describe the complete characterization of these iPSC lines: PRYDi-CB5 and PRYDi-CB40. (Source: Stem Cell Research)
Source: Stem Cell Research - February 28, 2019 Category: Stem Cells Source Type: research

Corrigendum to “Establishment of TUSMi007-A, an induced pluripotent stem cell (iPSC) line from an 83-year old Chinese Han patient with Alzheimer's disease (AD)” [Stem Cell Research 33(2018) 265–268]
Publication date: Available online 28 February 2019Source: Stem Cell ResearchAuthor(s): Ying Wang, Jing Zhang, Ying Lei, Jian Zhao (Source: Stem Cell Research)
Source: Stem Cell Research - February 28, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2
Publication date: Available online 20 February 2019Source: Stem Cell ResearchAuthor(s): Jiake Xu, Yong Fu, Weichun Xia, Jing He, Yan Zou, Wencong Ruan, Qi Lou, Ying Li, Jianwei Pan, Haifeng Li, Wei ChenAbstractThe human induced pluripotent stem cell (iPSC) line ZJUCHi002-A was established from renal epithelial cells present in urine (urinary cells) collected from an 8-year-old Charcot-Marie-Tooth disease type 2A (CMT2A) patient carrying point mutation in MFN2 (c.752C > T). Urinary cells were reprogrammed by retrovirus vectors containing reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. The pluripotency, capacity of...
Source: Stem Cell Research - February 21, 2019 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line (MUi010-A) from skin fibroblast of patient carrying a c.2104C>T mutation in MYH9 gene
Publication date: Available online 18 February 2019Source: Stem Cell ResearchAuthor(s): Amornrat Tangprasittipap, Bunyada Jittorntrum, Praguywan Kadegasem, Werasak Sasanakul, Nongnuch Sirachainan, Narisorn Kitiyanant, Suradej HongengAbstractMutations in MYH9 gene is one of the major causes of inherited thrombocytopenia resulted from nonfunctional myosin-9 protein. We have generated a human induced pluripotent stem cell line MUi010-A from skin fibroblasts of a patient who had a point mutation c.2104C>T (p.R702C) in the exon 16 of MYH9 gene using a non-integrative reprogramming method. The MUi010-A exhibited embryonic ste...
Source: Stem Cell Research - February 19, 2019 Category: Stem Cells Source Type: research

Human induced pluripotent stem cell line HMUi001-A derived from corneal stromal cells
Publication date: Available online 15 February 2019Source: Stem Cell ResearchAuthor(s): Timur Bikkuzin, Yan Shi, Baoqi Sun, Yiyuan Guo, Xin Jin, Zhenbo Han, Valentin Pavlov, Hong ZhangAbstractA human corneal stroma induced pluripotent stem cell (HMUi001-A) line was created from primary cultured human corneal fibroblasts. Reprogramming was performed using episomal vector delivery of OCT4, SOX2, KLF4, L-MYC and LIN28. Further characterization of the HMUi001-A confirmed that the cell line was pluripotent, free from Epstein Barr viral genome, and retained normal karyotype. (Source: Stem Cell Research)
Source: Stem Cell Research - February 16, 2019 Category: Stem Cells Source Type: research

Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ
Publication date: Available online 14 February 2019Source: Stem Cell ResearchAuthor(s): Jiake Xu, Yanpeng Wang, Jing He, Weichun Xia, Yan Zou, Wencong Ruan, Qi Lou, Ying Li, Haifeng Li, Wei ChenAbstractThe human iPSC cell line ZJUCHi001-A was established from renal epithelial cells present in urine (urinary cells) harvested from a 2-year-old Charcot-Marie-Tooth disease type 1B (CMT1B) patient carrying point mutation in MPZ (c.292C>T). Urinary cells were reprogrammed by retrovirus vectors containing reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. The pluripotency, capacity of differentiation into 3 germ layers, silenc...
Source: Stem Cell Research - February 15, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
Publication date: Available online 15 February 2019Source: Stem Cell ResearchAuthor(s): Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Carlos J. Alméciga-Díaz, Wei ZhengAbstractMucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known as glycosaminoglycans (GAGs). Deficiency in this enzyme causes accumulation of GAGs in lysosomes of body tissues. A human induced pluripotent stem cell (iPSC) l...
Source: Stem Cell Research - February 15, 2019 Category: Stem Cells Source Type: research

Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations
Publication date: Available online 13 February 2019Source: Stem Cell ResearchAuthor(s): Marina Riera, Achchhe Patel, Anniken Burés-Jelstrup, Borja Corcostegui, Stanley Chang, Esther Pomares, Barbara Corneo, Janet R. SparrowAbstractRecessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments. In this work, two human induced pluripotent stem cell (iPSC) lines were generated from STGD1 patients carrying compound heterozygous muta...
Source: Stem Cell Research - February 14, 2019 Category: Stem Cells Source Type: research

Erratum to “Development and characterization of human iPSC line NCCSi004-A from umbilical cord blood (UCB) derived CD34 + cells obtained from donor belonging to Indian ethnic population” [Stem Cell Research Volume 35, March 2019, 101,392]
Publication date: Available online 14 February 2019Source: Stem Cell ResearchAuthor(s): Sophia Fernandes, Shruti Tembe, Sanjay Singh, Shakti Vardhan, Velu Nair, Vaijayanti Kale, Lalita Limaye (Source: Stem Cell Research)
Source: Stem Cell Research - February 14, 2019 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I
Publication date: Available online 12 February 2019Source: Stem Cell ResearchAuthor(s): Mika Suga, Takayuki Kondo, Keiko Imamura, Ran Shibukawa, Yasue Okanishi, Yukako Sagara, Kayoko Tsukita, Takako Enami, Mahoko Furujo, Kaoru Saijo, Yukio Nakamura, Mitsujiro Osawa, Megumu K. Saito, Shinya Yamanaka, Haruhisa InoueAbstractMucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by the IDUA gene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, including skeletal abnormalities and cognitive impairment, ...
Source: Stem Cell Research - February 13, 2019 Category: Stem Cells Source Type: research

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
Publication date: Available online 11 February 2019Source: Stem Cell ResearchAuthor(s): Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-KlawitterAbstractFibroblasts of a patient with Infantile Liver Failure Syndrome 2 (OMIM #616483) due to a homozygous missense variant in the neuroblastoma amplified sequence gene (NBAS; c.[2708T>G]; c.[2708T>G]/p.[Leu903Arg]; p.[Leu903Arg]) were reprogrammed to iPSCs using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen) delivering the reprogramming factors ...
Source: Stem Cell Research - February 12, 2019 Category: Stem Cells Source Type: research

GMP-compatible manufacturing of three iPS cell lines from human peripheral blood
Publication date: Available online 11 February 2019Source: Stem Cell ResearchAuthor(s): Alexandra Haase, Wolfgang Glienke, Lena Engels, Gudrun Göhring, Ruth Esser, Lubomir Arseniev, Ulrich MartinAbstractThe utilization of human induced pluripotent stem cells (hiPSCs) for disease modeling and drug discovery is already reality, and several first-in-man-applications as cellular therapeutics have been initiated. Implementation of good manufacturing practice (GMP)-compliant protocols for the generation of hiPSC lines is crucial to increase the application safety as well as to fulfil the legal requirements for clinical tria...
Source: Stem Cell Research - February 11, 2019 Category: Stem Cells Source Type: research

Permeability analyses and three dimensional imaging of interferon gamma-induced barrier disintegration in intestinal organoids
Publication date: Available online 7 February 2019Source: Stem Cell ResearchAuthor(s): Marco Bardenbacher, Barbara Ruder, Natalie Britzen-Laurent, Benjamin Schmid, Maximilian Waldner, Elisabeth Naschberger, Michael Scharl, Werner Müller, Claudia Günther, Christoph Becker, Michael Stürzl, Philipp TripalAbstractThe aberrant regulation of the epithelial barrier integrity is involved in many diseases of the digestive tract, including inflammatory bowel diseases and colorectal cancer. Intestinal epithelial cell organoid cultures provide new perspectives for analyses of the intestinal barrier in vitro. However, es...
Source: Stem Cell Research - February 8, 2019 Category: Stem Cells Source Type: research

Constitutive activation of Notch2 signalling confers chemoresistance to neural stem cells via transactivation of fibroblast growth factor receptor-1
Publication date: Available online 7 February 2019Source: Stem Cell ResearchAuthor(s): Mercedes Tomé, Jan Tchorz, Martin Gassmann, Bernhard BettlerAbstractNotch signalling regulates neural stem cell (NSC) proliferation, differentiation and survival for the correct development and functioning of the central nervous system. Overactive Notch2 signalling has been associated with poor prognosis of aggressive brain tumours, such as glioblastoma multiforme (GBM). We recently reported that constitutive expression of the Notch2 intracellular domain (N2ICD) enhances proliferation and gliogenesis in NSCs. Here, we investigated...
Source: Stem Cell Research - February 8, 2019 Category: Stem Cells Source Type: research

Generation of human iPSCs from fetal prostate fibroblasts HPrF
Publication date: Available online 7 February 2019Source: Stem Cell ResearchAuthor(s): Zuzana Kahounová, Eva Slabáková, Lucia Binó, Ján Remšík, Radek Fedr, Jan Bouchal, Radek Vrtěl, Lucie Jurečková, Volodymyr Porokh, Darja Páralová, Aleš Hampl, Karel SoučekAbstractHuman induced pluripotent stem cell line was generated from commercially available primary human prostate fibroblasts HPrF derived from a fetus, aged 18–24 weeks of gestation. The fibroblast cell line was reprogrammed with Yamanaka factors (OCT4, SOX2, c-MYC, KLF4) using CytoT...
Source: Stem Cell Research - February 8, 2019 Category: Stem Cells Source Type: research

Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene
Publication date: Available online 7 February 2019Source: Stem Cell ResearchAuthor(s): Henriette R. Frederiksen, Bjørn Holst, Ulrike A. Mau-Holzmann, Kristine Freude, Benjamin SchmidAbstractAlzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with early age of onset. The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. Here, we report the generation of two isogenic iPSC lines with either a homozygous or a ...
Source: Stem Cell Research - February 8, 2019 Category: Stem Cells Source Type: research

Corrigendum to “Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis” [Stem Cell Res. 29(2018): 152–156]
Publication date: January 2019Source: Stem Cell Research, Volume 34Author(s): Chi-Hsien Peng, Kang-Chieh Huang, Huai-En Lu, Shih-Han Syu, Aliaksandr A. Yarmishyn, Jyh-Feng Lu, Waradee Buddhakosai, Tai-Chi Lin, Chih-Chien Hsu, De-Kuang Hwang, Chia-Ning Shen, Shih-Jen Chen, Shih-Hwa Chiou (Source: Stem Cell Research)
Source: Stem Cell Research - February 6, 2019 Category: Stem Cells Source Type: research

Cymerus™ iPSC-MSCs significantly prolong survival in a pre-clinical, humanized mouse model of Graft-vs-host disease
Publication date: Available online 1 February 2019Source: Stem Cell ResearchAuthor(s): E. Ilker Ozay, Jyothi Vijayaraghavan, Gabriela Gonzalez-Perez, Sudarvili Shanthalingam, Heather L. Sherman, Daniel T. Garrigan, Karthik Chandiran, Joe A. Torres, Barbara A. Osborne, Gregory N. Tew, Igor I. Slukvin, Ross A. Macdonald, Kilian Kelly, Lisa M. MinterAbstractThe immune-mediated tissue destruction of graft-vs-host disease (GvHD) remains a major barrier to greater use of hematopoietic stem cell transplantation (HSCT). Mesenchymal stem cells (MSCs) have intrinsic immunosuppressive qualities and are being actively investigated as ...
Source: Stem Cell Research - February 2, 2019 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy
Publication date: Available online 2 February 2019Source: Stem Cell ResearchAuthor(s): Thomas Klein, Katharina Klug, Lisa Henkel, Chee Keong Kwok, Frank Edenhofer, Eva Klopocki, Ingo Kurth, Nurcan ÜçeylerAbstractInduced pluripotent stem cells (iPSC) were derived from human dermal fibroblasts (HDF) of two siblings with small fiber neuropathy (SFN) potentially based on the same variation in SCN10A but exhibiting diverse disease phenotypes. HDF were reprogrammed using a non-integrating mRNA approach and showed robust expression of pluripotency markers. iPSC displayed no chromosomal aberrations and were differentia...
Source: Stem Cell Research - February 2, 2019 Category: Stem Cells Source Type: research

Differentiation and isolation of iPSC-derived remodeling ductal plate-like cells by use of an AQP1-GFP reporter human iPSC line
Publication date: Available online 31 January 2019Source: Stem Cell ResearchAuthor(s): Satoshi Matsui, Miyuki Ochiai, Katsutaro Yasuda, Shin-ichi Mae, Maki Kotaka, Taro Toyoda, Takuya Yamamoto, Kenji OsafuneAbstractCholangiocytes are the epithelial cells that line bile ducts, and ductal plate malformation is a developmental anomaly of bile ducts that causes severe congenital biliary disorders. However, because of a lack of specific marker genes, methods for the stepwise differentiation and isolation of human induced pluripotent stem cell (hiPSC)-derived cholangiocyte progenitors at ductal plate stages have not been establi...
Source: Stem Cell Research - February 1, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cell line (ZZUi0012-A) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene
Publication date: Available online 28 January 2019Source: Stem Cell ResearchAuthor(s): Qinxian Zhang, Zhuo Li, Huifang Sun, Shoutao Zhang, Jin Zhang, Yanlin Wang, Hui Fang, Yuming XuAbstractSeveral SLC20A2 mutations have been implicated as potential causes of Fahr's disease, a subtype of primary familial brain calcification (PFBC), but very few patient-derived induced pluripotent stem cell (iPSC) models have been established. We have identified a novel SLC20A2 mutation in a family with Fahr's disease. We subsequently obtained dermal fibroblasts from a patient in this family. These fibroblasts were successfully transformed ...
Source: Stem Cell Research - January 28, 2019 Category: Stem Cells Source Type: research

Establishment of TUSMi008-A, an induced pluripotent stem cell (iPSC) line from a 76-year old Alzheimer's disease (AD) patient with PAXIP1 gene mutation
Publication date: Available online 26 January 2019Source: Stem Cell ResearchAuthor(s): Ying Wang, Jing Zhang, Gang Li, Ying Lei, Jian ZhaoAbstractA 76-year old Alzheimer's disease (AD) female patient donated her 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 mig...
Source: Stem Cell Research - January 27, 2019 Category: Stem Cells Source Type: research

Development and characterization of human iPSC line NCCSi004-A from umbilical cord blood (UCB) derived CD34+cells obtained from donor belonging to Indian ethnic population
Publication date: Available online 26 January 2019Source: Stem Cell ResearchAuthor(s): Sophia Fernandes, Shruti Tembe, Sanjay Singh, Shakti Vardhan, Velu Nair, Vaijayanti Kale, Lalita LimayeAbstractHere we report the reprogramming of CD34+ cells obtained from UCB of a healthy donor female child belonging to the Indian ethnic population. These CD34+cells were subjected to nucleofection for delivery of episomal vectors expressing Oct4, Sox2, L-Myc, Lin28, Klf4 and p53DD (negative mutation in p53). The iPSC colonies expressed pluripotency markers as detected by PCR, immunofluorescence and flow-cytometry. The removal of plasmi...
Source: Stem Cell Research - January 27, 2019 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome
Publication date: Available online 26 January 2019Source: Stem Cell ResearchAuthor(s): Giovanna Piovani, Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Chiara Barisani, Giulia Savio, Silvia Clara GilianiAbstractThe Cri du Chat Syndrome (CdCS) is a genetic disease resulting from variable size deletion occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, severe psychomotor and mental retardation with characteristics of autism spectrum disorders such as hand flapping, obsessive attachments to objects, twirling objects, repetitive movements, and ro...
Source: Stem Cell Research - January 27, 2019 Category: Stem Cells Source Type: research

Receptor interacting protein kinase 3 (RIP3) regulates iPSCs generation through modulating cell cycle progression genes
In this study, we investigated the role of receptor-interacting protein kinase 3 (RIP3), an essential regulator of necroptosis, in reprogramming mouse embryonic fibroblast cells (MEFs) into iPSCs. RIP3 was found to be upregulated in iPSCs compared to MEFs. Deletion of RIP3 dramatically suppressed the reprogramming of iPSCs (~82%). RNA-seq analysis and qRT-PCR showed that RIP3 KO MEFs expressed lower levels of genes that control cell cycle progression and cell division and higher levels of extracellular matrix-regulating genes. The growth rate of RIP3 KO MEFs was significantly slower than WT MEFs. These findings can partial...
Source: Stem Cell Research - January 24, 2019 Category: Stem Cells Source Type: research

Corrigendum to: “Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del Cystic Fibrosis patients” Stem Cell Res. 2018 May; 29:1–5
Publication date: Available online 22 January 2019Source: Stem Cell ResearchAuthor(s): Aarne Fleischer, Iván M. Lorenzo, Esther Palomino, Trond Aasen, Fernando Gómez, Miguel Servera, Víctor J. Asensio, Víctor Gálvez, Juan Carlos Izpisúa-Belmonte, Daniel Bachiller (Source: Stem Cell Research)
Source: Stem Cell Research - January 23, 2019 Category: Stem Cells Source Type: research

Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations
Publication date: Available online 17 January 2019Source: Stem Cell ResearchAuthor(s): Marina Riera, Achchhe Patel, Borja Corcostegui, Stanley Chang, Janet R. Sparrow, Esther Pomares, Barbara CorneoAbstractRetinitis pigmentosa (RP) refers to a clinical and genetic heterogeneous group of inherited retinal degenerations characterized by photoreceptor cell death. In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. Skin fibroblasts were generated and reprogrammed by using a Se...
Source: Stem Cell Research - January 18, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
Publication date: Available online 17 January 2019Source: Stem Cell ResearchAuthor(s): Marina Riera, Achchhe Patel, Borja Corcostegui, Stanley Chang, Barbara Corneo, Janet R. Sparrow, Esther PomaresAbstractA human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing the Yamanaka factors and the resulting cells were fully characterized to confirm successful reprogramming. The iPSC...
Source: Stem Cell Research - January 18, 2019 Category: Stem Cells Source Type: research

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