Abstract：
:To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established control iPSC line. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. This iPSC line and the isogenic parental iPSC line will be of use in exploring osteogenesis imperfecta disease mechanisms and therapeutic approaches in vitro.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Hosseini Far H,Patria YN,Motazedian A,Elefanty AG,Stanley EG,Lamandé SR,Bateman JFdoi
10.1016/j.scr.2019.101449subject
Has Abstractpub_date
2019-05-01 00:00:00pages
101449eissn
1873-5061issn
1876-7753pii
S1873-5061(19)30079-0journal_volume
37pub_type
杂志文章abstract：:Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p.Arg299His) and c.929_930insC(p.Pro310Glnf...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.11.004
更新日期：2016-11-01 00:00:00
abstract：:Among the known causative genes of familial ALS, SOD1mutation is one of the most common. It encodes for the ubiquitous detoxifying copper/zinc binding SOD1 enzyme, whose mutations selectively cause motor neuron death, although the mechanisms are not as yet clear. What is known is that mutant-mediated toxicity is not c...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101924
更新日期：2020-07-25 00:00:00
abstract：:Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes mellitus presenting at childhood or adolescence, which eventually leads to pancreatic β-cells dysfunction. The underlying genetic basis of MODY disorders is haploinsufficiency, where loss-of-function mutations in a single allele cause the dia...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.06.013
更新日期：2018-08-01 00:00:00
abstract：:Human induced pluripotent stem cell-lines (iPSCs) of Indian origin NCCSi005A and NCCSi006A were established by reprogramming of CD4+T cells, isolated from the peripheral blood mononuclear cells (PBMCs) of two healthy female donors. Reprogramming was achieved using integration free, Sendai viral vector system expressin...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101506
更新日期：2019-08-01 00:00:00
abstract：:Transgene free UNIPDi002-A-human induced pluripotent stem cell (hiPSC) line was generated by Sendai Virus Vectors reprogramming from human oral mucosal epithelial stem cells (hOMESCs) of a patient affected by ectrodactyly-ectodermal dysplasia-clefting (EEC)-syndrome, carrying a mutation in exon 8 of the TP63 gene (R30...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.02.006
更新日期：2018-04-01 00:00:00
abstract：:Human embryonic stem (hES) cells have the dual ability to self-renew and differentiate into specialized cell types. However, in order to realize the full potential of these cells it is important to understand how the genes responsible for their unique characteristics are regulated. In this study we examine the regulat...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2011.10.003
更新日期：2012-03-01 00:00:00
abstract：:Satellite cells (SCs) are the resident stem cells of skeletal muscle tissue which play a major role in muscle adaptation, e.g. as a response to physical training. The aim of this study was to examine the effects of an intermittent lactate (La) treatment on the proliferation and differentiation of C2C12 myoblasts, simu...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.03.004
更新日期：2014-05-01 00:00:00
abstract：:Large-scale production of human induced pluripotent stem cells (hiPSCs) by robust and economic methods has been one of the major challenges for translational realization of hiPSC technology. Here we demonstrate a scalable culture system for hiPSC expansion using the E8 chemically defined and xeno-free medium under eit...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.07.011
更新日期：2013-11-01 00:00:00
abstract：:Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687+2T>A) in SPAST, leading to hereditary spastic paraplegia type 4 (SPG4). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.09.022
更新日期：2016-11-01 00:00:00
abstract：:Measurement of Alkaline Phosphatase (ALP) level is a widely used procedure in clinical and basic research. We present a simple and inexpensive luminescence-based method that allows multiplexed measurement and normalization of intracellular ALP levels in one sample well. The method comprises two commercially available ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2017.07.014
更新日期：2017-08-01 00:00:00
abstract：:GADD45A is a DNA damage and stressful growth arrest inducible protein, also it is shown to a be tumor suppressor gene and a chromatin relaxer associated with opening chromatin during the somatic reprogramming. However, its role in human embryonic stem cells and human embryonic stem cell modeled development has been me...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102090
更新日期：2020-12-01 00:00:00
abstract：:Tumor 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 t...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101659
更新日期：2020-01-01 00:00:00
abstract：:Gene therapy mediated by bone marrow-derived hematopoietic stem cells (BM-HSC) has been widely used in treating genetic deficiencies in both pre-clinical and clinical settings. Using mitotically inactive cell-targeting lentivirus with separate promoters for our gene of interest (the murine MHC class II (MHCII) chapero...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.10.010
更新日期：2014-01-01 00:00:00
abstract：:The human embryonic stem cell line RCe019-A (RC-15) was derived under quality assured compliance with UK regulation, European Union Directives and International guidance for tissue procurement, processing and storage according to Good Manufacturing Practice (GMP) standards. The cell line was derived from a cleavage st...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.04.003
更新日期：2016-05-01 00:00:00
abstract：:Maintenance of hematopoietic stem cells and their potential to give rise to progenitors of differentiated lymphoid and myeloid cells are accomplished by a network of regulatory processes. As a part of this network, the heteromeric transcription factor GA-binding protein (GABP) plays a crucial role in self-renewal of m...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.04.007
更新日期：2016-05-01 00:00:00
abstract：:Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic vectors. The generated iPSC clones ESi059A,...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102087
更新日期：2020-12-01 00:00:00
abstract：:The MB49 bladder cancer cell vaccine was effective against bladder cancer in the mice model in previous studies. However, part of the tumors regrew as the vaccine could not eliminate the cancer stem cells (CSCs). MB49 bladder cancer stem cells (MCSCs) were isolated by a combination of the limited dilution method and t...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.04.006
更新日期：2014-07-01 00:00:00
abstract：:An induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of com...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.01.007
更新日期：2018-03-01 00:00:00
abstract：:Cartilage defects have limited capacity for repair and are often replaced by fibrocartilage with inferior mechanical properties. To overcome the limitations of artificial joint replacement, high-throughput screens (HTS) could be developed to identify molecules that stimulate differentiation and/or proliferation of art...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2010.08.007
更新日期：2011-01-01 00:00:00
abstract：:The long QT syndrome type 3 (LQT3) is currently the 3rd most prevalent of the 15 known types of LQT syndrome. Cardiac events in LQT3 are less frequent than LQT1 and LQT2, but more likely to be fatal. LQT3 is caused by mutation in gene SCN5A, which codes for the Nav1.5 Na+ channel. Herein, we have generated a human emb...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2021.102194
更新日期：2021-01-25 00:00:00
abstract：:Salisphere-derived adult epithelial cells have been used to improve saliva production of irradiated mouse salivary glands. Importantly, optimization of the cellular composition of salispheres could improve their regenerative capabilities. The Rho Kinase (ROCK) inhibitor, Y27632, has been used to increase the prolifera...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101608
更新日期：2019-12-01 00:00:00
abstract：:The KCL017 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting splicing site of the VHL gene encoding von Hippel-Lindau tumor suppressor E3 ubiquitin protein ligase (676+3A>T). The ICM was isolated using laser microsurgery and plated on γ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.01.013
更新日期：2016-03-01 00:00:00
abstract：:Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of t...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.09.015
更新日期：2018-12-01 00:00:00
abstract：:The outcomes of clinical trials using bone marrow stromal cell (BMSC) are variable; the degree of the expansion of BMSCs during clinical manufacturing may contribute to this variability since cell expansion is limited by senescence. Human BMSCs from aspirates of healthy subjects were subcultured serially until cell gr...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.07.005
更新日期：2013-11-01 00:00:00
abstract：:The purpose of this study is to establish a murine embryonic stem cell (mESC) line for isolation of functional ventricular cardiomyocytes (VCMs) and then to characterize the derived VCMs. By crossing the myosin light chain 2v (Mlc2v)-Cre mouse line with the reporter strain Rosa26-yellow fluorescent protein (YFP), we g...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2011.08.004
更新日期：2012-01-01 00:00:00
abstract：:The niche concept of stem cell biology proposes a functional unit between the precursor cells and their local microenvironment, to which several cell types might contribute by cell-cell contacts, extracellular matrix, and humoral factors. We here established three co-culture models (with cell types separated by membra...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2015.09.010
更新日期：2015-11-01 00:00:00
abstract：:Induced pluripotent stem (iPS) cells are generated from mouse and human somatic cells by forced expression of defined transcription factors using different methods. Amniotic fluid (AF) cells are easy to obtain from routinely scheduled procedures for prenatal diagnosis and iPS cells have been generated from human AF. H...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2015.09.009
更新日期：2015-11-01 00:00:00
abstract：:Urine resource cells were collected from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids. Two stable iPSC lines with free of episomal plasmid were established. The patient has a heterozygous G>T mutation on the exon 9 of Men1 gene that was con...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.12.002
更新日期：2017-01-01 00:00:00
abstract：:Progenitor cells in the adult pancreas are potential sources of endocrine beta cells for treating type 1 diabetes. Previously, we identified tri-potent progenitor cells in the adult (2-4month-old) murine pancreas that were capable of self-renewal and differentiation into duct, acinar, and endocrine cells in vitro. The...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2015.11.015
更新日期：2016-01-01 00:00:00
abstract：:An important practical limitation of the three-dimensional geometry of stem-cell derived intestinal organoids is that it prevents easy access to the apical epithelium for testing food components, microorganisms, bioactive and toxic compounds. To this end, we here report on a new robust method for generating confluent ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.02.013
更新日期：2018-04-01 00:00:00
