Induced pluripotent stem cell line (PEIi003-A) derived from an apparently healthy male individual.
Publication date: Available online 4 December 2019Source: Stem Cell ResearchAuthor(s): Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Doris Steinemann, Gudrun Göhring, Renate KönigAbstractInduced pluripotent stem cells (iPSCs) are a useful tool to investigate pathomechanistic and cellular processes due to their differentiation potential into different somatic cell types in vitro. Here, we have generated iPSCs from an apparently healthy male individual using an integration-free reprogramming method. The resulting iPSCs are pluripotent and display a normal karyotype. Furt...
Source: Stem Cell Research - December 5, 2019 Category: Stem Cells Source Type: research

Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
Publication date: Available online 29 November 2019Source: Stem Cell ResearchAuthor(s): Noelia Benetó, Monica Cozar, Laura Gort, Laura Pacheco, Lluïsa Vilageliu, Daniel Grinberg, Isaac Canals (Source: Stem Cell Research)
Source: Stem Cell Research - November 30, 2019 Category: Stem Cells Source Type: research

Generation of two isogenic knockout PKD2 iPS cell lines, IRFMNi003-A-1 and IRFMNi003-A-2, using CRISPR/Cas9 technology.
Publication date: Available online 29 November 2019Source: Stem Cell ResearchAuthor(s): Piera Trionfini, Osele Ciampi, Elena Romano, Ariela Benigni, Susanna TomasoniAbstractAutosomal dominant polycystic kidney disease (ADPKD) is the most prevalent inherited renal disease, characterized by multiple cysts that can lead to kidney failure resulting in end-stage renal disease. ADPKD is mainly caused by mutations in either the PKD1 and PKD2 genes, encoding for polycystin-1 and polycystin-2, respectively. In order to clarify the disease mechanisms, here we describe the generation of two isogenic induced pluripotent stem cell (iPS...
Source: Stem Cell Research - November 30, 2019 Category: Stem Cells Source Type: research

Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A).
In this study, we used the non-integrational Sendai virus to generate induced pluripotent stem cell (iPSC) lines carrying the c.1430A>G (p.D477G) mutation from three familial RP patients. (Source: Stem Cell Research)
Source: Stem Cell Research - November 28, 2019 Category: Stem Cells Source Type: research

Hadassah, Provider of "Regulatory-Ready" Pluripotent Clinical-Grade Stem Cell Banks
Publication date: Available online 26 November 2019Source: Stem Cell ResearchAuthor(s): Shelly E Tannenbaum, Orna Singer, Yaniv Gil, Yael Berman-Zaken, Nili Ilouz, Hanita Khaner, Miriam Haimov, Benjamin E ReubinoffAbstractThe Hadassah hESC Research Center's aim is to be a supplier of clinical and research-grade human embryonic stem cell (hESC) lines. In 2012, we derived the first three entirely GMP-compliant and xeno-free, fully-characterised, feeder-dependent (human umbilical cord) hESC lines developed under cleanroom conditions. In 2018, we established four new GMP and xeno-free, feeder-independent MCB hESCs under GMP co...
Source: Stem Cell Research - November 27, 2019 Category: Stem Cells Source Type: research

The German Stem Cell Network GSCN - a nationwide network with many tasks
The objectives of the network are:•To maintain an organizational structure for a German network for basic and applied stem cell research;•To organize joint annual conferences on stem cell research to be rotated among German cities:•To coordinate scientific and strategic working groups;•To provide a platform for communication on stem cell research, enabling exchange of important news, discussions and networking between scientists, institutions, policy-makers and the general public (in German and English);•To publish documents about basic and applied stem cell research in Germany and help to organize...
Source: Stem Cell Research - November 27, 2019 Category: Stem Cells Source Type: research

The CIRM iPSC Repository
Publication date: Available online 26 November 2019Source: Stem Cell ResearchAuthor(s): Stephen S. Lin, Susan DeLaura, Eugenia M. Jones (Source: Stem Cell Research)
Source: Stem Cell Research - November 27, 2019 Category: Stem Cells Source Type: research

A collection of three integration-free iPSCs derived from old male and female healthy subjects
Publication date: Available online 23 November 2019Source: Stem Cell ResearchAuthor(s): Eva Rodríguez-Traver, Eva Díaz-Guerra, César Rodríguez, Fabián Arenas, María Orera, Jaime Kulisevsky, Rosario Moratalla, Carlos VicarioAbstractHere, we present the characterization of three iPSC lines derived from dermal fibroblasts of old healthy subjects. Fibroblasts were reprogrammed using Sendai viral vectors encoding OCT4, SOX2, KLF4 and c-MYC. The iPSCs expressed endogenous pluripotency markers, could generate the three germ layers (ectoderm, mesoderm and endoderm), maintained a stable kar...
Source: Stem Cell Research - November 24, 2019 Category: Stem Cells Source Type: research

Induced pluripotent stem cell (iPSC) line (HEBHMUi002-A) from a healthy female individual and neural differentiation
Publication date: Available online 23 November 2019Source: Stem Cell ResearchAuthor(s): Jun Ma, Jing Zhang, Aijing Liu, Yongzhou Song, Asiamah Ernest Amponsah, Ruiyun Guo, Desheng Kong, Baofeng Feng, Lin Wei, Huixian CuiAbstractInduced pluripotent stem cells (iPSCs) can be used to generate different types of somatic cells in vitro, including neuronal cells. Here, a human iPSC line was generated from the peripheral blood mononuclear cells of a healthy 39-year-old individual. The resulting iPSCs were integration-free, maintained the normal karyotype, expressed pluripotency stem cell markers, and were demonstrated to be capab...
Source: Stem Cell Research - November 24, 2019 Category: Stem Cells Source Type: research

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49 to 50 exons in the DMD gene
Publication date: Available online 23 November 2019Source: Stem Cell ResearchAuthor(s): Jingyun Guan, Xinnong Liu, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Zhongtao Gai, Yi LiuAbstractDuchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49 to 50 exons deletion in DMD gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSCs line (SDQLCHi007...
Source: Stem Cell Research - November 23, 2019 Category: Stem Cells Source Type: research

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
Publication date: Available online 20 November 2019Source: Stem Cell ResearchAuthor(s): Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Giovanna Piovani, Chiara Barisani, Cristina Sobacchi, Anna Villa, Paolo Vezzoni, Silvia GilianiAbstractAutosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes responsible for ARO, the TCIRG1 gene, coding for the a3 subunit of the osteoclast proton pump, is mutated in more than 50% of the cases, increasing the importance of TCIRG1-iPSCs as disease model. We generated 3 iPSC clones der...
Source: Stem Cell Research - November 21, 2019 Category: Stem Cells Source Type: research

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1
Publication date: Available online 20 November 2019Source: Stem Cell ResearchAuthor(s): Manuela Mura, Francesca Bastaroli, Marzia Corli, Monia Ginevrino, Federica Calabrò, Marina Boni, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano GnecchiAbstractWe generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 40 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). The hiPSCs, generated using classical approach of the four retroviruses enconding the reprogram...
Source: Stem Cell Research - November 21, 2019 Category: Stem Cells Source Type: research

Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene
Publication date: Available online 21 November 2019Source: Stem Cell ResearchAuthor(s): Jiwei Zhang, Liting Wei, Dingbang Chen, Li Feng, Chao Wu, Rui Wang, Xunhua LiAbstractHuman IPSC Line, ZZUNEUi003-A, was generated from a 32-year-old male patient with Wilson's Disease carrying a homozygous R778L mutation in ATP7B gene, using non-integrative reprogramming method. This cell line shows pluripotency both in vitro and vivo, and has a normal karyotype. (Source: Stem Cell Research)
Source: Stem Cell Research - November 21, 2019 Category: Stem Cells Source Type: research

Generation of a NKX2.1 – p63 double transgenic knock-in reporter cell line from human induced pluripotent stem cells (MHHi006-A-4)
Publication date: Available online 19 November 2019Source: Stem Cell ResearchAuthor(s): Nora Drick, Anais Sahabian, Praeploy Pongpamorn, Sylvia Merkert, Gudrun Göhring, Tobias Welte, Ulrich Martin, Ruth OlmerAbstractTumor protein p63 (p63) encodes for a transcription factor of the p53 family and is a marker for respiratory basal cells. Based on a NKX2.1 knock-in reporter cell line from human induced pluripotent stem cells (hiPSCs) (MHHi06-A-2) we established a NKX2.1/p63 double transgenic knock-in reporter cell line using TALEN technology. The reporter enables the optimization and monitoring of hiPSC differentiation t...
Source: Stem Cell Research - November 21, 2019 Category: Stem Cells Source Type: research

Establishment of an automated patch-clamp platform for electrophysiological and pharmacological evaluation of hiPSC-CMs
Publication date: Available online 18 November 2019Source: Stem Cell ResearchAuthor(s): Wener Li, Xiaojing Luo, Ying Ulbricht, Michael Wagner, Christopher Piorkowski, Ali El-Armouche, Kaomei GuanAbstractHuman induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) have evolved into widely used and reliable cell sources for modeling cardiovascular channelopathies and for drug safety pharmacology. However, the electrophysiological and pharmacological applications of hiPSC-CMs are hampered by manual patch-clamp technique, which is labor-intensive and generates a low-output. The automated patch-clamp technique is show...
Source: Stem Cell Research - November 20, 2019 Category: Stem Cells Source Type: research

Establishment of induced pluripotent stem cell line (GSPHi001-A) from a 6-year old female with nephrotic syndrome
Publication date: Available online 15 November 2019Source: Stem Cell ResearchAuthor(s): Xia Gao, Xin Gao, Haiyan Zhao, Weijing Cui, Mei Tan, Hui DengAbstractPeripheral blood mononuclear cells (PBMCs) were collected from a 6-year-old female child who was clinically diagnosed as primary nephrotic syndrome (NS) with hormone resistance. An iPSC line was successfully established by the Sendai-virus (SeV) delivery system. The iPS-19 (GSPHi001-A) expressed pluripotent markers, exhibited a normal karyotype and differentiated towards three germ layers. The iPSC line might offer a potentially useful tool for investigating mechanisms...
Source: Stem Cell Research - November 15, 2019 Category: Stem Cells Source Type: research

Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations
Publication date: Available online 13 November 2019Source: Stem Cell ResearchAuthor(s): Muwan Chen, Muyesier Maimaitili, Susanne Hvolbøl Buchholdt, Uffe Birk Jensen, Fabia Febbraro, Mark DenhamAbstractWe generated eight induced pluripotent stem cell (iPSC) lines from Parkinson's disease (PD) patients with different familial mutations using non-integrating episomal plasmids. All iPSC lines have a normal karyotype, express pluripotent genes including POU5F1, NANOG, and show alkaline phosphatase activity, as well as the ability to differentiate into all three germ layers. These PD iPSC lines can be used for disease mod...
Source: Stem Cell Research - November 15, 2019 Category: Stem Cells Source Type: research

Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/− and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B)
We report here the derivation of familial iPSC lines from two controls and three ASD patients carrying NRXN1α+/−, using a non-integrating Sendai viral kit. The genotype and karyotype of the resulting iPSCs were validated by whole genome SNP array. All iPSC lines expressed comparable levels of pluripotency markers and could be differentiated into three germ layers. (Source: Stem Cell Research)
Source: Stem Cell Research - November 15, 2019 Category: Stem Cells Source Type: research

Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT Syndrome Type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation
In this study, we describe the generation and characterization of induced pluripotent stem cell (iPSC) lines from familial long QT syndrome type 1 (LQT1) patients carrying the KCNQ1 c.1201dupC (p.Arg401fs) frame shift mutation by using non-integrational Sendai reprogramming method. The patient-specific iPSC lines harbouring the c.1201dupC mutation on KCNQ1 gene expressed pluripotency markers and had the capacity to differentiate into three germ layers. (Source: Stem Cell Research)
Source: Stem Cell Research - November 15, 2019 Category: Stem Cells Source Type: research

The role of CXC receptors signaling in early stages of mouse embryonic stem cell differentiation
In this study, using in vitro differentiating mouse embryonic stem cells that lacked the function of CXCR7, we asked the question about the role of CXCR mediated signaling during early steps of differentiation. Our analysis showed that interaction of SDF-1 or ITAC with CXC receptors is necessary for the regulation of crucial developmental regulators expression and that CXCR7 is involved in the control of ESC pluripotency and differentiation into mesodermal lineages.Graphical abstract (Source: Stem Cell Research)
Source: Stem Cell Research - November 11, 2019 Category: Stem Cells Source Type: research

Effects of reprogramming on genomic imprinting and the application of pluripotent stem cells
Publication date: Available online 9 November 2019Source: Stem Cell ResearchAuthor(s): Xiajun Li, Max Jiahua Li, Yang Yang, Yun BaiAbstractPluripotent stem cells are considered to be the ideal candidates for cell-based therapies in humans. In this regard, both nuclear transfer embryonic stem (ntES) cells and induced pluripotent stem (iPS) cells are particularly advantageous because patient-specific autologous ntES and iPS cells can avoid immunorejection and other side effects that may be present in the allogenic pluripotent stem cells derived from unrelated sources. However, they have been found to contain deleterious gene...
Source: Stem Cell Research - November 11, 2019 Category: Stem Cells Source Type: research

Application of CRISPR/Cas9 editing and digital droplet PCR in human iPSCs to generate novel knock-in reporter lines to visualize dopaminergic neurons
We present a reproducible knock-in strategy combined with a highly specific homologous directed repair (HDR) screening approach using digital droplet PCR (ddPCR). The knock-in cell lines that we created show a functioning fluorescent reporter system for DA neurons that are identifiable by flow cytometry. (Source: Stem Cell Research)
Source: Stem Cell Research - November 11, 2019 Category: Stem Cells Source Type: research

Lymphoblast-derived hiPS cell lines generated from four individuals of a family of genetically unrelated parents and their female monozygotic twins.
Publication date: Available online 8 November 2019Source: Stem Cell ResearchAuthor(s): Marga J Bouma, Christian Freund, Adriaan P IJzerman, Dorret I Boomsma, Christine L Mummery, Karine RaymondAbstractLymphoblast cells from four individuals of a family of two genetically unrelated parents and their monozygotic twins were used to generate integration-free human induced pluripotent stem cells (hiPSCs). Reprogramming factors were delivered by co-electroporation of three episomal-based plasmids expressing OCT3/4, SOX2, KLF4, L-MYC and LIN28. The hiPSCs showed a normal karyotype, expressed pluripotency-associated markers, displ...
Source: Stem Cell Research - November 9, 2019 Category: Stem Cells Source Type: research

Generation of two iPSC lines, (ICGi015-A and ICGi015-B), by reprogramming peripheral blood mononuclear cells from a patient with Parkinson's disease
Publication date: Available online 9 November 2019Source: Stem Cell ResearchAuthor(s): D.V. Sharipova, V.R. Kovalenko, E.M. Bairamova, V.A. Vartanova, E.V. Grigor'eva, Y.V. Vyatkin, E.A. Khabarova, D.A. Rzaev, S.M. Zakian, S.P. MedvedevAbstractStudying Parkinson's disease (PD), one of the most common neurodegenerative disorders worldwide, requires different model systems, including patient-specific induced pluripotent stem cell lines. With the help of non-integrating episomal vectors the IPSC lines ICGi015-A and ICGi015-B were generated from blood mononuclear cells of PD patient, carrying three SNPs, associated with PD dev...
Source: Stem Cell Research - November 9, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation
Publication date: December 2019Source: Stem Cell Research, Volume 41Author(s): J. Frew, X. Wu, G.Y. Hsiung, H.H. Feldman, I.R. Mackenzie, H.B. NygaardAbstractInduced pluripotent stem cells (iPSCs) were generated from peripheral blood-derived erythroid progenitor cells obtained from a presymptomatic female carrying the heterozygous R418X progranulin (GRN) nonsense mutation, known to cause autosomal dominant frontotemporal lobar degeneration. Erythroid progenitor cells were reprogrammed into iPSCs using integration free episomal plasmids which enables exogenous expression of the Yamanaka factors. The pluripotent potential of...
Source: Stem Cell Research - November 9, 2019 Category: Stem Cells Source Type: research

Generation of gene-corrected iPSC line, KIOMi002-A, from Parkinson's disease patient iPSC with LRRK2 G2019S mutation using BAC-based homologous recombination
Publication date: Available online 6 November 2019Source: Stem Cell ResearchAuthor(s): Seo-Young Lee, Sun-Ku ChungAbstractMutations in leucine-rich repeat kinase 2 (LRRK2) gene (LRRK2 G2019S) is a representative autosomal dominant mutation that can cause Parkinson's disease (PD). A bacterial artificial chromosome-based homologous recombination (BAC-based HR) system was utilized for gene therapy of LRRK2 G2019S-mutant induced pluripotent stem cells (iPSCs) produced by reprogramming episomal vectors. The gene-corrected iPSCs retained typical pluripotency required for their spontaneous differentiation into differentiated cell...
Source: Stem Cell Research - November 8, 2019 Category: Stem Cells Source Type: research

Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C>T) mutation in the LMNA gene
Publication date: Available online 6 November 2019Source: Stem Cell ResearchAuthor(s): Cheng Xiao, Miao Yu, Jieying Liu, Han Wu, Mingqun Deng, Qian Zhang, Xinhua XiaoAbstractFamilial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the LMNA gene, which encodes for the lamin A/C. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 30 year-old male patient with FPLD2 who had a heterozygous p.R349W (c.1045C>T) mutation in the LMNA gene using non-integrating episomal vector technique. This...
Source: Stem Cell Research - November 8, 2019 Category: Stem Cells Source Type: research

Transformed Bone Marrow Cells Generate Neoplasms of Distinct Histogenesis. A Murine Model of Cancer Transplantation
Publication date: Available online 5 November 2019Source: Stem Cell ResearchAuthor(s): Mireia Castillo-Martin, Nataliya Gladoun, Dan Han, Adolfo Firpo-Betancourt, Jose M. Silva, Carlos Cordon-CardoAbstractThe last several years have witnessed renewed interest regarding the contribution of cancer stem cells in tumorigenesis and neoplastic heterogeneity. It has been reported that patients who undergo bone marrow transplantation are more prone to develop a malignancy during their life time; usually hematological tumors, but solid neoplasms may also develop, which in certain instances are donor-derived. It has also been well d...
Source: Stem Cell Research - November 6, 2019 Category: Stem Cells Source Type: research

Generation of two ERF gene knockout human embryonic stem cell lines using CRISPR/Cas9 System
Publication date: Available online 6 November 2019Source: Stem Cell ResearchAuthor(s): Lihui Si, Ruiqi Yang, Jian Liu, Yubo Dong, Hongtao Zhang, Xiaohong XuAbstractHuman ERF gene is a transcription factor involved in development, trophoblast differentiation, apoptosis, and cancer progress. To further understand the exact roles of ERF in these processes, here we report that establishment of two ERF knockout human embryonic stem cell (hESC) lines by CRISPR/Cas9 mediated gene targeting. These cell lines exhibited classical hESC morphology and normal karyotype, and highly expressed pluripotent markers, and had differentiation ...
Source: Stem Cell Research - November 6, 2019 Category: Stem Cells Source Type: research

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant
Publication date: Available online 4 November 2019Source: Stem Cell ResearchAuthor(s): Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk MøllerAbstractBardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport (IFT) particles and mediates trafficking of membrane proteins in the cilium, a process important for cilia-mediated signal transducti...
Source: Stem Cell Research - November 5, 2019 Category: Stem Cells Source Type: research

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother
Publication date: Available online 5 November 2019Source: Stem Cell ResearchAuthor(s): Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, Cécile Méjécase, Amélie Slembrouck-Brec, Christel Condroyer, Christelle Michiels, José-Alain Sahel, Sacha Reichman, Christina Zeitz, Olivier Goureau, Isabelle AudoAbstractHuman induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of a patient affected with an autosomal dominant retinal dystrophy carrying the mutation c.782A>C, p.Glu261Ala in ITM2B and from an unaffected brother. Three different iPSC lines were generated and...
Source: Stem Cell Research - November 5, 2019 Category: Stem Cells Source Type: research

Generation of Fibrodysplasia ossificans progressiva and control integration free iPSC lines from periodontal ligament fibroblasts
Publication date: Available online 5 November 2019Source: Stem Cell ResearchAuthor(s): G. Sanchez-Duffhues, H. Mikkers, D. de Jong, K. Szuhai, T.J. de Vries, C. Freund, N. Bravenboer, R.J.J. van Es, J.C. Netelenbos, M-J. Goumans, E.M.W. Eekhoff, P ten DijkeAbstractFibrodysplasia ossificans progressiva (FOP) is a very rare devastating heterotopic ossification disorder, classically caused by a heterozygous single point mutation (c.617G>A) in the ACVR1 gene, encoding the Bone morphogenetic protein (BMP) type I receptor, also termed activin receptor-like kinase (ALK)2. FOP patients develop heterotopic ossification episodica...
Source: Stem Cell Research - November 5, 2019 Category: Stem Cells Source Type: research

Generation of 5 hiPSC Lines Derived from Three Unrelated Idiopathic Parkinson Disease Patients and Two Unrelated Healthy Control Individuals
We describe generation of human induced pluripotent stem cell (hiPSC) lines of three unrelated idiopathic late onset Parkinson disease patients and two healthy controls above 60 years of age without neurological diseases nor Ashkenazi ancestry. Human iPSC were derived from peripheral blood-erythroblasts using integration free episomal plasmids carrying four reprogramming factors OCT4, SOX2, c-MYC, KLF4 and BCL-XL. The hiPSC lines were characterized according to established criteria. (Source: Stem Cell Research)
Source: Stem Cell Research - November 5, 2019 Category: Stem Cells Source Type: research

Generation of human induced pluripotent stem cells from peripheral blood mononuclear cells of a Senior-Loken syndrome patient
Publication date: Available online 1 November 2019Source: Stem Cell ResearchAuthor(s): Hyeyeon Park, Jinu Han, Youngsun Lee, Sungwook Kwak, Soo Kyung KooAbstractSenior-Loken syndrome (SLS) is a rare disorder primarily associated with kidney and retinal dysfunction. We generated a human induced pluripotency stem cell (hiPSC) line, designated DKHi005-A, from peripheral blood mononuclear cells of a patient with SLS using a Sendai virus reprogramming method. We confirmed that DKHi005-A cells harbor the same mutation as the patient and show a normal karyotype. DKHi005-A also has pluripotency and the capacity for differentiation...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

Generation of an induced pluripotent stem cell line (SYSUi002-A) from a patient with coronary slow flow phenomenon
Publication date: Available online 2 November 2019Source: Stem Cell ResearchAuthor(s): Xingqiang Lai, Boxiong Jiang, Jia Liu, Yina Wang, Guifu WuAbstractThe coronary slow flow phenomenon (CSFP) is characterized by delayed progression of the injected contrast medium through the coronary tree during coronary angiography due to unknown mechanisms. Here, a human induced pluripotent stem cell (iPSC) line (SYSUi002-A) was established using the Sendai-virus delivery system from dermal fibroblasts of a CSFP patient. This cell line may represent a valuable tool for investigating the pathogenesis and therapeutic strategies of CSFP. ...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

An induced pluripotent stem cells line (SDQLCHi014-A) derived from urine cells of a patient with ASD and hyperactivity carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene
Publication date: Available online 2 November 2019Source: Stem Cell ResearchAuthor(s): Xiaomeng Yang, Yong Liu, Tiancheng Zhou, Haiyan Zhang, Rui Dong, Yue Li, Ning Liu, Yi Liu, Zhongtao GaiAbstractAutism spectrum disorder (ASD) is a childhood-onset neurodevelopmental disorder challenged in social reciprocity and restrictive repetitive behaviors. Here, we generated an induced pluripotent stem cell (iPSC) line SDQLCHi014-A from a patient with ASD and hyperactivity, carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene by reprogramming urine cells with non-integrating vectors. SDQLCHi014-A have shown full plu...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD)
Publication date: Available online 2 November 2019Source: Stem Cell ResearchAuthor(s): Bo-Young Kim, Jin-Sung Lee, Yong-Ou Kim, Mi-hyun Park, Soo Kyung KooAbstractPrader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of paternally expressed genes in an imprinted region of 15q11.2-q13. We established a human-induced pluripotent stem cell (hiPSC) line, KSCBi007-A, from the peripheral blood mononuclear cells of a 5-month-old girl with PWS that retained maternal uniparental disomy (UPD). Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of genomic DNA revealed the mater...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

Alpha7 Nicotinic Acetylcholine Receptors and Neural Network Synaptic Transmission in Human Induced Pluripotent Stem Cell-derived Neurons
Publication date: Available online 31 October 2019Source: Stem Cell ResearchAuthor(s): Hjalte M. Larsen, Susanne K. Hansen, Jens D. Mikkelsen, Poul Hyttel, Tina C. StummannAbstractThe α7 nicotinic acetylcholine receptor has been extensively researched as a target for treatment of cognitive impairment in Alzheimer's disease and schizophrenia. Investigation of the α7 receptor is commonly performed in animals but it is critical to increase the biologically relevance of the model systems to fully capture the physiological role of the α7 receptor in humans. For example most humans, in contrast to animals, expr...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

Transcriptomic Profiling of Porcine Pluripotency Identifies Species-specific Reprogramming Requirements for Culturing iPSCs
Publication date: Available online 31 October 2019Source: Stem Cell ResearchAuthor(s): Mette Habekost, Arne Lund Jørgensen, Per Qvist, Mark DenhamAbstractPorcine embryonic and induced pluripotent stem cells (ESCs; iPSCs) have proven difficult to derive and maintain in vitro. This may be due to inappropriate culturing conditions and incomplete activation of proper pluripotency networks. To this end, we characterized the transcriptome of porcine inner cell mass, epiblast, and transgene-dependent iPSCs in relation to human and mouse embryonic and epiblast stem cells. We found that porcine inner cell mass have a unique ...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

Generation of a knock-in MAP2-tdTomato reporter human embryonic stem cell line with inducible expression of NEUROG2/1 (NYGCe001-A)
Publication date: Available online 1 November 2019Source: Stem Cell ResearchAuthor(s): Congyi Lu, Neville E. SanjanaAbstractOverexpression of NEUROG2 and NEUROG1 (NEUROG2/1) in human embryonic stem cells (hESCs) rapidly produces functional networks of excitatory and inhibitory neurons. To facilitate the use of this efficient inducible human neuron model in neuroscience research, we generated hESCs with doxycycline-inducible NEUROG2/1 via lentivirus and a tdTomato fluorescent reporter knock-in at the MAP2 locus using the CRISPR nuclease Cas9. Upon doxycycline-driven induction of NEUROG2/1, these hESCs differentiate within d...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

Generation of two induced pluripotent stem cell lines (NHLBIi001-A and NHLBIi001-B) from a healthy Caucasian female volunteer with normal cardiac function
Publication date: Available online 1 November 2019Source: Stem Cell ResearchAuthor(s): Kira Patterson, Jeanette Beers, Kaari L. Linask, Yongshun Lin, Shahin Hassanzadeh, Michael N. Sack, Jizhong ZouAbstractHuman-derived induced pluripotent stem cells (iPSCs) have proven to be indispensable in cardiovascular drug development, disease modeling, and developmental biology research. For this reason, it is particularly useful to develop wild-type iPSC lines to be used in experimental or control conditions. Here, we present two such cell lines generated from a sample of peripheral blood mononuclear cells (PBMCs) from a healthy pa...
Source: Stem Cell Research - November 2, 2019 Category: Stem Cells Source Type: research

The role of CXC receptors signaling in early stages of mouse embryonic stem cells differentiation
In this study, using in vitro differentiating mouse embryonic stem cells that lacked the function of CXCR7, we asked the question about the role of CXCR mediated signaling during early steps of differentiation. Our analysis showed that interaction of SDF-1 or ITAC with CXC receptors is necessary for the regulation of expression of crucial developmental regulators and that CXCR7 is involved in the control of ESC pluripotency and differentiation into mesodermal lineages.Graphical abstract (Source: Stem Cell Research)
Source: Stem Cell Research - October 31, 2019 Category: Stem Cells Source Type: research

Generation of human induced pluripotent stem cell line carrying SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing
Publication date: December 2019Source: Stem Cell Research, Volume 41Author(s): Paweorn Angsutararux, Sudjit Luanpitpong, Pimjai Chingsuwanrote, Kantpitchar Supraditaporn, Supaporn Waeteekul, Papussorn Terbto, Chanchao Lorthongpanich, Chuti Laowtammathron, Yaowalak U-Pratya, Surapol IssaragrisilAbstractHuman induced pluripotent stem cells (hiPSCs) derived from dermal fibroblasts having wild type (WT) SCN5A were engineered by CRISPR/Cas9-mediated genome editing to harbor a specific point mutation (C2204>T) in SCN5A, which results in a substitution of the WT alanine by valine at codon 735 (A735V). The established MUSli009-...
Source: Stem Cell Research - October 31, 2019 Category: Stem Cells Source Type: research

Post-Passage ROCK Inhibition Induces Cytoskeletal Aberrations and Apoptosis in Human Embryonic Stem Cells
Publication date: Available online 28 October 2019Source: Stem Cell ResearchAuthor(s): Lijie Gao, Suman C. Nath, Xiyao Jiao, Rongyan Zhou, Sandra Nishikawa, Roman Krawetz, Xiangyun Li, Derrick E. RancourtAbstractHuman embryonic stem cells (hESCs) and induced pluripotent stem cells (hiPSCs) are prone to anoikis after single cell dissociation. The small molecule, Y-27632 is known to increase survival of hESCs and hiPSCs by inhibiting the Rho-associated protein kinase (ROCK). However, the underlying mechanisms are still unclear. Here, we thoroughly screened small molecules to investigate the adhesion and survival of hESCs in ...
Source: Stem Cell Research - October 30, 2019 Category: Stem Cells Source Type: research

Generation of Rybp Homozygous Knockout murine ES cell line GIBHe001-A-1 by using CRISPR/Cas9 technology
Publication date: Available online 26 October 2019Source: Stem Cell ResearchAuthor(s): Zicong Liu, Mingze Yao, Gongcheng Hu, Hongjie YaoAbstractRYBP (Ring1 and YY1 Binding Protein) is critical for pluripotency and differentiation of embryonic stem cells (ESCs). RYBP depletion disturbs both neural and myocardial differentiation of ESCs. Moreover, low level of RYBP is correlated with diseases such as glioblastoma. To study the biological function of RYBP in neural differentiation of ESCs, here we generated Rybp homozygous knockout murine ESC line based on Sox1-GFP reporter using CRISPR/Cas9 genome editing technology. The las...
Source: Stem Cell Research - October 27, 2019 Category: Stem Cells Source Type: research

Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation
Publication date: Available online 25 October 2019Source: Stem Cell ResearchAuthor(s): Bo-Young Kim, Jung Min Ko, Mi-hyun Park, Soo Kyung KooAbstractOsteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones. OI type I is the most common and usually the mildest form. We generated human induced pluripotent stem cells (hiPSCs), KSCBi006-A, from the peripheral blood mononuclear cells of a patient with OI type I using the Sendai virus delivery method. The generated hiPSCs retained the disease-causing DNA mutation (COL1A1, c.3162delT) and showed a normal karyotype. KSCBi006-A also has pluripotency and the...
Source: Stem Cell Research - October 27, 2019 Category: Stem Cells Source Type: research

Generation of four induced pluripotent stem cell lines, GZWWTi001-A, GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral blood mononuclear cells from a family with asparagine synthetase deficiency
Publication date: Available online 25 October 2019Source: Stem Cell ResearchAuthor(s): Xie Yingjun, Lu Dian, Wang Ding, Li Shaoying, Yang Yinghong, Liu Nengqing, Sun XiaofangAbstractAsparagine synthetase (ASNS) deficiency (ASNSD; MIM #615574) is a rare neurodevelopmental disorder caused by mutations in the ASNS gene. The ASNS gene maps to cytogenetic band 7q21.3 and is 35 kb long. ASNSD is characterised by congenital microcephaly, severely delayed psychomotor development, seizures, and hyperekplexic activity. Here, we reported a family with compound heterozygous mutations in ASNS (NM_001178076:c.551C>T; c. 944A>C) an...
Source: Stem Cell Research - October 27, 2019 Category: Stem Cells Source Type: research

Generation of a human induced pluripotent stem cell line (PHAi003) from a primary immunodeficient patient with CD70 mutation
Publication date: Available online 25 October 2019Source: Stem Cell ResearchAuthor(s): Jonathan Arias-Fuenzalida, Jingwei Yu, Hassan Abolhassani, Likun Du, Joaquin Custodio, Qiang Pan-HammarströmAbstractPrimary immunodeficiency (PID) comprises a heterogeneous group of over 330 genetic disorders, caused mainly by single-gene mutations, such as CD70. We generated human induced pluripotent stem cell lines, PHAi003-A and PHAi003-B, from a PID patient carrying the homozygous frameshift CD70 mutation c.250delT. The CD70 c.250delT genotype results in a complete loss of expression variant. This patient is one of the five CD70...
Source: Stem Cell Research - October 27, 2019 Category: Stem Cells Source Type: research

Generation of a homozygous HDAC6 knockout human embryonic stem cell line by CRISPR/Cas9 editing
Publication date: Available online 25 October 2019Source: Stem Cell ResearchAuthor(s): Liangqun Xie, Jingrui Huang, Xun Li, Lei Dai, Xinxiu Lin, Jiejie Zhang, Jiefeng Luo, Weishe ZhangAbstractHistone deacetylase 6 (HDAC6) is a unique cytoplasmic enzyme in the HDAC family. The HDAC6 has been shown to play important roles in several biological processes. Meanwhile, it is also an attractive therapeutic target for a variety of diseases. However, the mechanism of HDAC6 function is not fully understood yet, and it is still lacking highly specific targeted drugs. Here, we generated a homozygous HDAC6 knockout human embryonic stem...
Source: Stem Cell Research - October 27, 2019 Category: Stem Cells Source Type: research

Characterization of mesoangioblast cell fate and improved promyogenic potential of a satellite cell-like subpopulation upon transplantation in dystrophic murine muscles
Publication date: Available online 25 October 2019Source: Stem Cell ResearchAuthor(s): Lionel O. Mavoungou, Samuel Neuenschwander, Uyen Pham, Pavithra S. Iyer, Nicolas MermodABSTRACTDuchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease caused by the lack of dystrophin in muscle fibers that is currently without curative treatment. Mesoangioblasts (MABs) are multipotent progenitor cells that can differentiate to a myogenic lineage and that can be used to express Dystrophin upon transplantation into muscles, in autologous gene therapy approaches. However, their fate in the muscle environment remains poorly...
Source: Stem Cell Research - October 27, 2019 Category: Stem Cells Source Type: research