Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A   & gt;  T, p.(Lys1277*)
Publication date: Available online 18 June 2018 Source:Stem Cell Research Author(s): Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo, Milena Crippa, Laura Mazzanti, Claudia Scalera, Ennio Prosperi, Daniela Giardino, Cristina Gervasini, Palma Finelli, Giulio Pompilio, Lidia Larizza Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes. We generated an induced pluripotent stem cell line from an RSTS2 patient's blood mononu...
Source: Stem Cell Research - June 19, 2018 Category: Stem Cells Source Type: research

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons
Publication date: Available online 12 June 2018 Source:Stem Cell Research Author(s): Julia Higelin, Alberto Catanese, Lena Luisa Semelink-Sedlacek, Sertap Oeztuerk, Anne-Kathrin Lutz, Julia Bausinger, Gotthold Barbi, Günter Speit, Peter M. Andersen, Albert C. Ludolph, Maria Demestre, Tobias M. Boeckers Mutations in genes coding for proteins involved in DNA damage response (DDR) and repair, such as C9orf72 and FUS (Fused in Sarcoma), are associated with neurodegenerative diseases and lead to amyotrophic lateral sclerosis (ALS). Heterozygous loss-of-function mutations in NEK1 (NIMA-related kinase 1) have also been rece...
Source: Stem Cell Research - June 13, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A
Publication date: Available online 11 June 2018 Source:Stem Cell Research Author(s): Stefanie Nicole Hayer, Yvonne Schelling, Jeannette Huebener-Schmid, Jonasz Jeremiasz Weber, Stefan Hauser, Ludger Schöls A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A (iPSC-SCA3). Skin fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC, and hLIN28. The iPSC-SCA3 line exhibits chromosomal stabi...
Source: Stem Cell Research - June 12, 2018 Category: Stem Cells Source Type: research

PDK1 regulates definitive HSCs via the FOXO pathway during murine fetal liver hematopoiesis
Publication date: Available online 11 June 2018 Source:Stem Cell Research Author(s): Weili Wang, Xiaolu Sun, Tianyuan Hu, Le Wang, Shuxu Dong, Jie Gu, Yanjing Chu, Xiaomin Wang, Yanhan Li, Yongxin Ru, Tao Cheng, Weiping Yuan PDK1 (phosphoinositide dependent kinase-1) plays an important regulatory role in B cells, T cells and platelets. Less is known about how PDK1 acts in hematopoietic stem cells (HSCs), especially in the fetal liver (FL) during embryonic hematopoiesis, as the FL is the primary fetal hematopoietic organ and the main site of HSC expansion and differentiation. Here, we deleted the PDK1 gene in hematopoietic...
Source: Stem Cell Research - June 12, 2018 Category: Stem Cells Source Type: research

Generation of gene-corrected iPSC line from Parkinson's disease patient iPSC line with alpha-SNCA A53T mutation
Publication date: Available online 9 June 2018 Source:Stem Cell Research Author(s): Seo-Young Lee, SangKyun Jeong, Janghwan Kim, Sun-Ku Chung Parkinson's disease (PD) is the second most common age-related neurodegenerative disorder. PD can result from a mutation of alpha-synuclein (α-SNCA), such as α-SNCA A53T. Using episomal vectors, induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts with the α-SNCA A53T mutation. A huge bacterial artificial chromosome (BAC) harboring the normal α-SNCA gene successfully corrected the α-SNCA A53T-mutant iPSCs. Melting curve analysis f...
Source: Stem Cell Research - June 10, 2018 Category: Stem Cells Source Type: research

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74  year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant
Publication date: Available online 1 June 2018 Source:Stem Cell Research Author(s): Soraia Martins, Hatice Yigit, Martina Bohndorf, Nina Graffmann, Aurelian Robert Fiszl, Wasco Wruck, Kristel Sleegers, Christine Van Broeckhoven, James Adjaye Human lymphoblast cells from a male diagnosed with Alzheimer's disease (AD) expressing the TREM2 p.R47H variant were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, KLF4, LIN28, L-MYC and p53 shRNA. The derived iPSC line – AD-TREM2-3 was defined as pluripotent based on (i) expression of pl...
Source: Stem Cell Research - June 2, 2018 Category: Stem Cells Source Type: research

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
Publication date: Available online 30 May 2018 Source:Stem Cell Research Author(s): Valentina Alari, Silvia Russo, Benedetta Terragni, Paola Francesca Ajmone, Alessandra Sironi, Ilaria Catusi, Luciano Calzari, Daniela Concolino, Rosa Marotta, Donatella Milani, Daniela Giardino, Massimo Mantegazza, Cristina Gervasini, Palma Finelli, Lidia Larizza Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the...
Source: Stem Cell Research - May 31, 2018 Category: Stem Cells Source Type: research

Generation of two isogenic human induced pluripotent stem cell lines from a 15  year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA
Publication date: Available online 28 May 2018 Source:Stem Cell Research Author(s): Shih-Jie Chou, Yu-Ling Ko, Yu-Hsuan Yang, Aliaksandr A. Yarmishyn, Yu-Ting Wu, Chien-Tsun Chen, Hsin-Chen Lee, Yau-Huei Wei, Shih-Hwa Chiou MERRF syndrome is predominantly caused by A8344G mutation in the mitochondrial DNA (mtDNA), affecting MT-TK gene, which impairs the mitochondrial electron transport chain function. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines, TVGH-iPSC-MRF-Mlow and TVGH-iPSC-MRF-Mhigh, from the skin fibroblasts of a female MERRF patient harboring mtDNA A8344G mutation by us...
Source: Stem Cell Research - May 29, 2018 Category: Stem Cells Source Type: research

Efficient and high yield isolation of myoblasts from skeletal muscle
Publication date: Available online 24 May 2018 Source:Stem Cell Research Author(s): Aref Shahini, Kalyan Vydiam, Debanik Choudhury, Nika Rajabian, Thy Nguyen, Pedro Lei, Stelios T. Andreadis Skeletal muscle (SkM) regeneration relies on the activity of myogenic progenitors that reside beneath the basal lamina of myofibers. Here, we describe a protocol for the isolation of the SkM progenitors from young and old mice by exploiting their outgrowth potential from SkM explants on matrigel coated dishes in the presence of high serum, chicken embryo extract and basic fibroblast growth factor. Compared to other protocols, this met...
Source: Stem Cell Research - May 25, 2018 Category: Stem Cells Source Type: research

Inverse agonism of retinoic acid receptors directs epiblast cells into the paraxial mesoderm lineage
Publication date: Available online 22 May 2018 Source:Stem Cell Research Author(s): Ryan P. Russell, Yu Fu, Yaling Liu, Peter Maye We have investigated the differentiation of paraxial mesoderm from mouse embryonic stem cells utilizing a Tbx6-EYFP/Brachyury (T)- Cherry dual reporter system. Differentiation from the mouse ESC state directly into mesoderm via Wnt pathway activation was low, but augmented by treatment with AGN193109, a pan-retinoic acid receptor inverse agonist. After five days of differentiation, T+ cells increased from 12.2% to 18.8%, Tbx6+ cells increased from 5.8% to 12.7%, and T+/Tbx6+ cells increased fr...
Source: Stem Cell Research - May 23, 2018 Category: Stem Cells Source Type: research

Chondrogenic differentiation in vitro of hiPSCs activates pathways engaged in limb development
Publication date: July 2018 Source:Stem Cell Research, Volume 30 Author(s): Ewelina Stelcer, Katarzyna Kulcenty, Marcin Rucinski, Karol Jopek, Magdalena Richter, Tomasz Trzeciak, Wiktoria Maria SuchorskaGraphical abstract (Source: Stem Cell Research)
Source: Stem Cell Research - May 23, 2018 Category: Stem Cells Source Type: research

Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient
Publication date: Available online 21 May 2018 Source:Stem Cell Research Author(s): Alisa Ritthaphai, Methichit Wattanapanitch, Manop Pithukpakorn, Worapa Heepchantree, Rungtip Soi-ampornkul, Panchalee Mahaisavariya, Daranporn Triwongwaranat, Kovit Pattanapanyasat, Chinnavuth Vatanashevanopakorn Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia type 3 (SCA3). Fibroblasts were reprogrammed by nucleofection with episomal plasmids, carrying L-MYC, LIN28, OCT4, SOX2, KLF4, EBNA-1 and shRNA against p53. The SCA3 patient-specific iPSC line, MUSIi004-A, was characterized by immunofluo...
Source: Stem Cell Research - May 22, 2018 Category: Stem Cells Source Type: research

Generation of a human CDX2 knock-in reporter iPSC line (MHHi007-A-1) to model human trophoblast differentiation
Publication date: Available online 19 May 2018 Source:Stem Cell Research Author(s): Svitlana Malysheva, Stephanie Wunderlich, Alexandra Haase, Gudrun Göhring, Ulrich Martin, Sylvia Merkert Caudal-type homeobox 2 (CDX2) transcription factor is an important marker for early trophoblast lineages and intestinal epithelium. Due to its nuclear expression the immunostaining and sorting of viable CDX2pos cells is not possible. In this paper we report the generation and describe key characteristics of a CDX2Venus knock-in reporter hiPSC-cell line (MHHi007-A-1) which can serve as a human in vitro tool to study human trophoblas...
Source: Stem Cell Research - May 20, 2018 Category: Stem Cells Source Type: research

Induced pluripotent stem cells derived from a schizophrenia patient with ASTN2 deletion
Publication date: Available online 19 May 2018 Source:Stem Cell Research Author(s): Yuko Arioka, Itaru Kushima, Hisako Kubo, Daisuke Mori, Norio Ozaki Astrotactin-2, encoded by ASTN2, is implicated in neuronal migration. Although genetic studies of schizophrenia (SCZ) patients have suggested that exonic deletions of ASTN2 are associated with neurodevelopmental and psychiatric disorders, their biological significance remains unclear. Herein, we generated human induced pluripotent stem cells (iPSCs) from a SCZ patient with an exonic deletion of ASTN2. The generated iPSCs carried ASTN2 deletion and showed typical iPSC morpho...
Source: Stem Cell Research - May 19, 2018 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line from a patient with a rare A673T variant in amyloid precursor protein gene that reduces the risk for Alzheimer's disease
Publication date: Available online 19 May 2018 Source:Stem Cell Research Author(s): Šárka Lehtonen, Ida Höytyläinen, Jenni Voutilainen, Tuuli-Maria Sonninen, Johanna Kuusisto, Markku Laakso, Riikka H. Hämäläinen, Minna Oksanen, Jari Koistinaho An amyloid precursor protein (APP) A673T mutation was found to be protective against Alzheimer's disease (AD) and cognitive decline in the Icelandic population and to associate with decreased levels of plasma β-amyloid in a Finnish population-based cohort. Human fibroblasts from a Finnish male individual carrying the protective mutation we...
Source: Stem Cell Research - May 19, 2018 Category: Stem Cells Source Type: research

Induction of quiescence (G0) in bone marrow stromal stem cells enhances their stem cell characteristics
Publication date: Available online 17 May 2018 Source:Stem Cell Research Author(s): Mohammad Rumman, Abhijit Majumder, Linda Harkness, Balu Venugopal, M.B. Vinay, Malini S. Pillai, Moustapha Kassem, Jyotsna Dhawan Several studies have suggested that bone marrow stromal steam cells (BMSC) exist in a quiescent state (G0) within the in vivo niche; however, an explicit analysis of the biology of G0 state-BMSC has not been reported. We hypothesized that induction of G0 in BMSC might enhance their stem cell properties. Thus, we induced quiescence in BMSC in vitro by (a) suspension culture in a viscous medium or (b) culture on s...
Source: Stem Cell Research - May 18, 2018 Category: Stem Cells Source Type: research

Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient
In conclusion, we here demonstrated for the first time that human TARDBP mutated MNs can be successfully obtained exploiting the reprogramming and differentiation ability of peripheral blood cells, an easily accessible source from any patient. (Source: Stem Cell Research)
Source: Stem Cell Research - May 18, 2018 Category: Stem Cells Source Type: research

Isolation of primitive mouse extraembryonic endoderm (pXEN) stem cell lines
Publication date: Available online 18 May 2018 Source:Stem Cell Research Author(s): Yixiang Zhong, Taewoong Choi, Minjae Kim, Kyoung Hwa Jung, Young Gyu Chai, Bert Binas Mouse blastocysts contain the committed precursors of the extraembryonic endoderm (ExEn), which express the key transcription factor Oct4, depend on LIF/LIF-like factor-driven Jak/Stat signaling, and initially exhibit lineage plasticity. Previously described rat blastocyst-derived ExEn precursor-like cell lines (XENP cells/HypoSCs) also show these features, but equivalent mouse blastocyst-derived cell lines are lacking. We now present mouse blastocyst-der...
Source: Stem Cell Research - May 18, 2018 Category: Stem Cells Source Type: research

Establishment of an integration-free induced pluripotent stem cell line (MUSIi005-A) from exfoliated renal epithelial cells
Publication date: Available online 10 May 2018 Source:Stem Cell Research Author(s): Bootsakorn Boonkaew, Weeradee Thummavichit, Ratchapong Netsrithong, Chinnavuth Vatanashevanopakorn, Kovit Pattanapanyasat, Methichit Wattanapanitch Human induced pluripotent stem cells (iPSCs) were generated from exfoliated renal epithelial cells isolated from a urine sample of a 31-year-old healthy woman. Epithelial cells were characterized for the expression of E-cadherin and reprogrammed using non-integrating Sendai viral vectors. The urine-derived iPSC line (designated as MUSIi005-A) was karyotypically normal, expressed pluripotent mar...
Source: Stem Cell Research - May 17, 2018 Category: Stem Cells Source Type: research

Generation of integration-free induced pluripotent stem cells from a patient with spina bifida
Publication date: Available online 17 May 2018 Source:Stem Cell Research Author(s): Hongran Wang, Shuying Zhao, Richard H. Finnell, Timothy George, Austin J. Cooney A skin biopsy was obtained from a 14-year-old female patient with a history of Myelomeningocele. Dermal fibroblasts were isolated and reprogrammed with Sendai virus (SeV) vectors encoding OCT3/4, SOX2, KLF4, and c-MYC. The generated induced Pluripotent Stem Cell (iPSC) clones NTDi4_09A were free of genomically integrated reprogramming genes, had a stable normal karyotype and expressed pluripotency markers. The iPSCs formed teratomas in mice, which were differe...
Source: Stem Cell Research - May 17, 2018 Category: Stem Cells Source Type: research

Metabolic plasticity during transition to na ïve-like pluripotency in canine embryo-derived stem cells
Publication date: July 2018 Source:Stem Cell Research, Volume 30 Author(s): I.C. Tobias, R.R. Isaac, J.G. Dierolf, R. Khazaee, R.C. Cumming, D.H. Betts Pluripotent stem cells (PSCs) have been described in naïve or primed pluripotent states. Domestic dogs are useful translational models in regenerative medicine, but their embryonic stem cells (cESCs) remain narrowly investigated. Primed-like cESCs expanded in the presence of leukemia inhibitory factor and fibroblast growth factor 2 (LIF-FGF2) acquire features of naïve pluripotency when exposed to chemical inhibitors and LIF (2iL). However, proliferation of cESCs ...
Source: Stem Cell Research - May 17, 2018 Category: Stem Cells Source Type: research

Computer simulation of neutral drift among limbal epithelial stem cells of mosaic mice
In this study we used computer simulations to show that these results could also be explained by stochastic replacement of LESCs by neighbouring LESCs, leading to neutral drift of LESC populations. This was shown to reduce the number of coherent clones of LESCs and hence would coarsen the mosaic pattern in the corneal epithelium without reducing the absolute number of LESCs. Simulations also showed that corrected stripe numbers declined more slowly when LESCs were grouped, non-randomly and that mosaicism was rarely lost unless simulated LESC numbers were unrealistically low. Possible reasons why age-related changes differ ...
Source: Stem Cell Research - May 14, 2018 Category: Stem Cells Source Type: research

Developing two reference control samples for the Indian population
Publication date: Available online 12 May 2018 Source:Stem Cell Research Author(s): Shruti Iyer, Priyanka Bhatia, Mahendra Rao, Odity Mukherjee Human induced Pluripotent Stem Cells (HiPSCs) have immense potential in research and therapeutics. Under the aegis of Department of Biotechnology funded national program entitled, “The Accelerator program for Discovery in Brain Disorders using Stem Cells (ADBS)” we have established a HiPSC biorepository (https://www.ncbs.res.in/adbs/bio-repository) with an objective to study severe mental illness. The repository comprises of HiPSC lines derived from healthy control don...
Source: Stem Cell Research - May 13, 2018 Category: Stem Cells Source Type: research

CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability
Publication date: Available online 12 May 2018 Source:Stem Cell Research Author(s): Jinhong Meng, Francesco Muntoni, Jennifer Morgan Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy. Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the missing dystrophin protein, thus improving muscle function. CD133+ cells derived from normal human skeletal muscle contribute to regenerated muscle fibres and form muscle stem ...
Source: Stem Cell Research - May 13, 2018 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line
We report the generation of the human iPSC line LEIi004-A from a patient with late-onset non-syndromic retinitis pigmentosa caused by compound heterozygous mutations in the CLN3 gene. Reprogramming of primary dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA. To create a coisogenic control line, one CLN3 variant was corrected in the patient-iPSC using CRISPR/Cas9 gene editing to generate the iPSC line LEIi004-A-1. (Source: Stem Cell Research)
Source: Stem Cell Research - May 2, 2018 Category: Stem Cells Source Type: research

Feedback control of pluripotency in embryonic stem cells: Signaling, transcription and epigenetics
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Dmitri Papatsenko, Avinash Waghray, Ihor R. Lemischka Embryonic stem cells (ESCs) can proliferate and self-renew, maintaining their pluripotency status in vitro for a long period of time. Pluripotent states of ESCs in vitro are supported by a network of signaling, transcriptional and epigenetic regulatory interactions known as the pluripotency gene regulatory network (PGRN). Despite extensive investigation of the network, the exact order of regulatory links and many structural features of the network are still missing. Analysis of published data an...
Source: Stem Cell Research - May 2, 2018 Category: Stem Cells Source Type: research

Derivation and characterization of the NIH registry human stem cell line NYSCF101 under defined feeder-free conditions
Publication date: Available online 30 April 2018 Source:Stem Cell Research Author(s): Ana Sevilla, Eliana Forero, Matthew Zimmer, Hector Martinez, Katie Reggio, Daniel Paull, Dieter Egli, Scott Noggle The human embryonic stem cell line NYSCFe002-A was derived from a day 6 blastocyst in feeder-free and antibiotic free conditions. The blastocyst was voluntarily donated for research as surplus after in vitro fertilization treatment following informed consent. The NYSCFe002-A line expresses all the pluripotency markers and has the potential to differentiate into all three germ layers in vitro. The line presents normal karyoty...
Source: Stem Cell Research - May 1, 2018 Category: Stem Cells Source Type: research

Efficient production of erythroid, megakaryocytic and myeloid cells, using single cell-derived iPSC colony differentiation
Publication date: Available online 28 April 2018 Source:Stem Cell Research Author(s): Marten Hansen, Eszter Varga, Cathelijn Aarts, Tatjana Wust, Taco Kuijpers, Marieke von Lindern, Emile van den Akker Hematopoietic differentiation of human induced pluripotent stem cells (iPSCs) provide opportunities not only for fundamental research and disease modelling/drug testing but also for large-scale production of blood effector cells for future clinical application. Although there are multiple ways to differentiate human iPSCs towards hematopoietic lineages, there is a need to develop reproducible and robust protocols. Here we i...
Source: Stem Cell Research - April 28, 2018 Category: Stem Cells Source Type: research

Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration
Publication date: Available online 28 April 2018 Source:Stem Cell Research Author(s): Selin Pars, Fernando Cristo, José M. Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Patrícia Mendes, Duarte Saraiva Martins, Luís Pereira de Almeida, José Maio, Rui Anjos, José A. Belo A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vitro differentiation potential, karyotype ...
Source: Stem Cell Research - April 28, 2018 Category: Stem Cells Source Type: research

Direct conversion of human pluripotent stem cells into cranial motor neurons using a piggyBac vector
Publication date: Available online 27 April 2018 Source:Stem Cell Research Author(s): Riccardo De Santis, Maria Giovanna Garone, Francesca Pagani, Valeria de Turris, Silvia Di Angelantonio, Alessandro Rosa Human pluripotent stem cells (PSCs) are widely used for in vitro disease modeling. One of the challenges in the field is represented by the ability of converting human PSCs into specific disease-relevant cell types. The nervous system is composed of a wide variety of neuronal types with selective vulnerability in neurodegenerative diseases. This is particularly relevant for motor neuron diseases, in which different moto...
Source: Stem Cell Research - April 27, 2018 Category: Stem Cells Source Type: research

Establishment of a human embryonic stem cell line with homozygous TP53 R248W mutant by TALEN mediated gene editing
Publication date: Available online 27 April 2018 Source:Stem Cell Research Author(s): An Xu, Ruoji Zhou, Jian Tu, Zijun Huo, Dandan Zhu, Donghui Wang, Julian A. Gingold, Helen Mata, Pulivarthi H. Rao, Mo Liu, Alaa M.T. Mohamed, Celine Shuet Lin Kong, Brittany E. Jewell, Weiya Xia, Ruiying Zhao, Mien-Chie Hung, Dung-Fang Lee Genetic mutations in TP53 contribute to multiple human cancers. Here we report the generation of a H1-p53(R248W/R248W) human embryonic stem cell line harboring a homozygous TP53 R248W mutation created by TALEN-mediated precise gene editing. The H1-p53(R248W/R248W) cell line maintains a normal karyotype...
Source: Stem Cell Research - April 27, 2018 Category: Stem Cells Source Type: research

NKX6.1 induced pluripotent stem cell reporter lines for isolation and analysis of functionally relevant neuronal and pancreas populations
Publication date: Available online 23 April 2018 Source:Stem Cell Research Author(s): Shailesh Kumar Gupta, Agata Wesolowska-Andersen, Anna K. Ringgaard, Himjyot Jaiswal, Luyan Song, Benoit Hastoy, Camilla Ingvorsen, Amir Taheri-Ghahfarokhi, Björn Magnusson, Marcello Maresca, Rikke R. Jensen, Nicola L. Beer, Johannes J. Fels, Lars G. Grunnet, Melissa K. Thomas, Anna L. Gloyn, Ryan Hicks, Mark I. McCarthy, Mattias Hansson, Christian Honoré Recent studies have reported significant advances in the differentiation of human pluripotent stem cells to clinically relevant cell types such as the insulin producing beta-...
Source: Stem Cell Research - April 24, 2018 Category: Stem Cells Source Type: research

Blood-derived integration-free iPS cell line UKBi011-A from a diagnosed male Alzheimer's disease patient with APOE ɛ4/ɛ4 genotype
Publication date: Available online 23 April 2018 Source:Stem Cell Research Author(s): Michael Peitz, Tamara Bechler, Catrin Cornelia Thiele, Monika Veltel, Melanie Bloschies, Klaus Fliessbach, Alfredo Ramirez, Oliver Brüstle Alzheimer's disease (AD) is most the frequent neurodegenerative disease, and the APOE ε4 allele is the most prominent risk factor for late-onset AD. Here, we present an iPSC line generated from peripheral blood cells of a male AD patient employing Sendai virus vectors encoding the transcription factors OCT4, SOX2, KLF4 and c-MYC. The characterized iPSC line expresses typical human pluripo...
Source: Stem Cell Research - April 24, 2018 Category: Stem Cells Source Type: research

Derivation and characterization of a UCP1 reporter human ES cell line
This reporter cell line thus presents new opportunities to study human brown fat biology by enabling future work to understand early human brown fat development, perform disease modeling, and facilitate drug screening. (Source: Stem Cell Research)
Source: Stem Cell Research - April 23, 2018 Category: Stem Cells Source Type: research

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease
Publication date: Available online 21 April 2018 Source:Stem Cell Research Author(s): Giovannina Rotundo, Eris Bidollari, Daniela Ferrari, Iolanda Spasari, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Simone Migliore, Ferdinando Squitieri, Angelo Luigi Vescovi, Jessica Rosati Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical clinical manifestations compared to classical...
Source: Stem Cell Research - April 22, 2018 Category: Stem Cells Source Type: research

Spermatogonial stem cells and spermatogenesis in mice, monkeys and men
Publication date: Available online 21 April 2018 Source:Stem Cell Research Author(s): Adetunji P. Fayomi, Kyle E. Orwig Continuous spermatogenesis in post-pubertal mammals is dependent on spermatogonial stem cells (SSCs), which balance self-renewing divisions that maintain stem cell pool with differentiating divisions that sustain continuous sperm production. Rodent stem and progenitor spermatogonia are described by their clonal arrangement in the seminiferous epithelium (e.g., Asingle, Apaired or Aaligned spermatogonia), molecular markers (e.g., ID4, GFRA1, PLZF, SALL4 and others) and most importantly by their biological...
Source: Stem Cell Research - April 22, 2018 Category: Stem Cells Source Type: research

Generation of an integration-free iPSC line (CSCRi005-A) from erythroid progenitor cells of a healthy Indian male individual
We describe here an iPSC line generated using such conditions, which expressed all the pluripotency markers, retained normal karyotype and exhibited the potential for tri-lineage differentiation, both in-vitro and in-vivo. This is the first iPSC line available from a healthy Indian individual for researchers. (Source: Stem Cell Research)
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1
Publication date: Available online 6 April 2018 Source:Stem Cell Research Author(s): Manuela Mura, Monia Ginevrino, Rita Zappatore, Federica Pisano, Marina Boni, Silvia Castelletti, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano Gnecchi We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51 years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1), not associated with deafness. The hiPSCs, generated using four retroviruses each encoding for a reprogram...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene
We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs). (Source: Stem Cell Research)
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16
Publication date: Available online 9 April 2018 Source:Stem Cell Research Author(s): Stefanie Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hauser STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with recessive spinocerebellar ataxia type 16 (OMIM #615768), carrying compound heterozygous mutations (c.355C>T, c.880A>T) in STUB1. Genomic integrity of the iPSC line HIHCNi001...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line from urinary cells of a patient with primary congenital glaucoma using integration free Sendai technology
Publication date: Available online 9 April 2018 Source:Stem Cell Research Author(s): Jingxue Zhang, Shen Wu, Man Hu, Qian Liu We have generated a human induced pluripotent stem cell (iPSC) line derived from urinary cells of a 10 years old patient with primary congenital glaucoma (PCG). The cells were reprogrammed with the human OSKM transcription factors using the Sendai-virus delivery system and shown to have full differentiation potential. The line is available and registered in the human pluripotent stem cell registry as BIOi001-A. (Source: Stem Cell Research)
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis
In this report, we generated a patient-specific induced pluripotent stem cell (iPSC) line, TVGH-iPSC-013-05, from the peripheral blood mononuclear cells of a male patient with XLRS by using the Sendai-virus delivery system. We believe that XLRS patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease. (Source: Stem Cell Research)
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Functional assessment of spermatogonial stem cell purity in experimental cell populations
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Tessa Lord, Jon M. Oatley Historically, research in spermatogonial biology has been hindered by a lack of validated approaches to identify and isolate pure populations of the various spermatogonial subsets for in-depth analysis. In particular, although a number of markers of the undifferentiated spermatogonial population have now been characterized, standardized methodology for assessing their specificity to the spermatogonial stem cell (SSC) and transit amplifying progenitor pools has been lacking. To date, SSC content within an undefined populati...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): E. Richard, S. Brasil, A. Briso-Montiano, E. Alonso-Barroso, M.E. Gallardo, B. Merinero, M. Ugarte, L.R. Desviat, B. Pérez Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Yonglong Guo, Qiaolang Zeng, Shiwei Liu, Quan Yu, Peiyuan Wang, Hongjie Ma, Shanshan Shi, Xin Yan, Zekai Cui, Mengyuan Xie, Yunxia Xue, Qingbing Zha, Zhijie Li, Jun Zhang, Shibo Tang, Jiansu Chen We have established an induced pluripotent stem (iPS) cell line using urine-derived cells from a 27-year-old male patient with retinitis pigmentosa associated with point mutations in the USH2A gene. Feeder-free culture conditions and the integration-free CytoTune™-iPS 2.0 Sendai Reprogramming Kit were used. (Source: Stem Cell Research)
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Ronald A.M. Buijsen, Sarah L. Gardiner, Marga J. Bouma, Linda M. van der Graaf, Merel W. Boogaard, Barry A. Pepers, Bert Eussen, Annelies de Klein, Christian Freund, Willeke M.C. van Roon-Mom Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs) from a SCA1 patient and his non-affected sister by using non-integrating Sendai Viruses (SeV). The resulting hiPSCs are SeVfree, express pluripotency markers, display a...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Production of live fish derived from frozen germ cells via germ cell transplantation
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Goro Yoshizaki, Seungki Lee The conservation of endangered fish is an urgent issue. Although cryo-banking of fish gametes might ultimately help conserve endangered fish, cryopreservation of fish eggs or embryos is still not possible due to their large size and high yolk content. Therefore, as an alternative, we focused on undifferentiated germ cells, such as primordial germ cells, spermatogonia, and oogonia, as materials for cryopreservation. Transplantation of cryopreserved germ cells into the body cavity of allogeneic or xenogeneic recipients ste...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation
In this report, we generated an induced pluripotent stem cell (iPSC) line, TVGH-iPSC-012-04, from the peripheral blood mononuclear cells of a female patient with BD by using the Sendai virus delivery system. The resulting iPSCs retained the disease-causing DNA mutation, expressed pluripotent markers and could differentiate into three germ layers. We believe that BD patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease. (Source: Stem Cell Research)
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Generation of Duchenne muscular dystrophy patient-specific induced pluripotent stem cell line lacking exons 45 –50 of the dystrophin gene (IITi001-A)
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Binyamin Eisen, Ronen Ben Jehuda, Ashley J. Cuttitta, Lucy N. Mekies, Irina Reiter, Sindhu Ramchandren, Michael Arad, Daniel E. Michele, Ofer Binah Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45–50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), diffe...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research

Derivation and characterization of the NIH registry human stem cell line NYSCF100 line under defined feeder-free conditions
Publication date: May 2018 Source:Stem Cell Research, Volume 29 Author(s): Ana Sevilla, Eliana Forero, Matthew Zimmer, Hector Martinez, Katie Reggio, Daniel Paull, Dieter Egli, Scott Noggle The human embryonic stem cell line NYSCFe001-A was derived from a day 6 blastocyst in feeder-free and antibiotic free conditions. The blastocyst was voluntarily donated for research as surplus after in vitro fertilization treatment following informed consent. The NYSCFe001-A line, registered as NYSCF100 on the NIH registry, presents normal karyotype, is mycoplasma free, expresses all the pluripotency markers and has the potential to di...
Source: Stem Cell Research - April 14, 2018 Category: Stem Cells Source Type: research