Abstract：
:Dominant deafness-onychodystrophy (DDOD) syndrome is a rare, autosomal dominant inherited disorder with no concrete therapies in human. We previously identified c.1516 C > T (p.Arg506*) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. The induced pluripotent stem cell (iPSC) line was generated using the non-integrating episomal vector method from peripheral blood mononuclear cells (PBMCs) of a 10-month-old female DDOD patient with heterozygous ATP6V1B2 c.1516 C > T variant. This cell line may serve as a useful model for studying the pathogenic mechanisms and treatment of DDOD syndrome.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Gao X,Qiu SW,Feng ML,Huang SS,Kang DY,Han MY,Dai P,Yuan YYdoi
10.1016/j.scr.2020.101986subject
Has Abstractpub_date
2020-10-01 00:00:00pages
101986eissn
1873-5061issn
1876-7753pii
S1873-5061(20)30287-7journal_volume
48pub_type
杂志文章abstract：OBJECTIVE:Fecal incontinence reduces the quality of life of many women but has no long-term cure. Research on mesenchymal stem cell (MSC)-based therapies has shown promising results. The primary aim of this study was to evaluate functional recovery after treatment with MSCs in two animal models of anal sphincter injury...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2012.10.002
更新日期：2013-01-01 00:00:00
abstract：:Wolfram Syndrome is a rare, autosomal recessive genetic disorder with clinical symptoms appearing in early childhood. Here, we report a generation of iPSCs from fibroblasts of a patient affected by this disease. Induced pluripotent cells obtained with the application of integration-free episomal vectors display a norm...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101858
更新日期：2020-07-01 00:00:00
abstract：:The KCL034 human embryonic stem cell line was derived from a normal healthy blastocyst donated for research. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment and under ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2015.12.034
更新日期：2016-01-01 00:00:00
abstract：:This study elucidated the stage-specific roles of FGF2 signaling during neural development using in-vitro human embryonic stem cell-based developmental modeling. We found that the dysregulation of FGF2 signaling prior to the onset of neural induction resulted in the malformation of neural rosettes (a neural tube-like ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.08.012
更新日期：2016-09-01 00:00:00
abstract：:SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chin...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101524
更新日期：2019-10-01 00:00:00
abstract：:The KCL035 human embryonic stem cell line was derived from an embryo donated for research that carried a mutation in the HBB gene, which is linked to the β-thalassemia syndrome. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propag...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.01.007
更新日期：2016-03-01 00:00:00
abstract：:Haploidentical hematopoietic stem-cell transplantation (haplo-HSCT) is associated with an increased risk of graft failure and severe graft-versus-host disease (GVHD). Mesenchymal stromal cells (MSCs) have been shown to support in vivo normal hematopoiesis and to display potent immunesuppressive effects. We cotransplan...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.10.001
更新日期：2014-01-01 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：: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：:The cancer stem cell model postulates that tumors are hierarchically organized with a minor population, the cancer stem cells, exhibiting unlimited proliferative potential. These cells give rise to the bulk of tumor cells, which retain a limited ability to divide. Without successful targeting of cancer stem cells, tum...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2017.11.009
更新日期：2018-01-01 00:00:00
abstract：: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 integra...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.05.007
更新日期：2018-08-01 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：:Optimization of pluripotent stem cell expansion and differentiation is facilitated by biological tools that permit non-invasive and dynamic monitoring of pluripotency, and the ability to select for an undifferentiated input cell population. Here we report on the generation and characterisation of clonal human embryoni...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.05.006
更新日期：2014-09-01 00:00:00
abstract：:The human embryonic stem cell line RCe011-A (RC-7) was derived from a failed to fertilise oocyte voluntarily donated as unsuitable and surplus to fertility requirements following ethics committee approved informed consent under licence from the UK Human Fertilisation and Embryology Authority. The cell line shows norma...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.02.036
更新日期：2016-03-01 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：:Members of the Fanconi anemia (FA) protein family are involved in multiple cellular processes including response to DNA damage and oxidative stress. Here we show that a major FA protein, Fancd2, plays a role in mitochondrial biosynthesis through regulation of mitochondrial translation. Fancd2 interacts with Atad3 and ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101550
更新日期：2019-10-01 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：:The European Bank for induced Pluripotent Stem Cells (EBiSC), a non-profit repository for storage, banking, Quality Control (QC) and subsequent distribution of research-grade human induced Pluripotent Stem Cell (iPSC) lines, has centralised iPSC lines generated internationally across >35 disease areas and made them av...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102034
更新日期：2020-12-01 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：:In order to evaluate the functional significance of palmitoylation during multi-potent neural stem/progenitor cell proliferation and differentiation, retinoic acid-induced P19 cells were used in this study as a model system. Cell behaviour was monitored in the presence of the protein palmitoylation inhibitor 2-bromopa...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.12.010
更新日期：2014-03-01 00:00:00
abstract：:The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemist...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.10.016
更新日期：2018-12-01 00:00:00
abstract：:In the present study, we investigated the effect of simultaneous downregulation of uPAR and cathepsin B (pUC), alone or in combination with radiation, on JNK-MAPK signaling pathway in regulating the migration of non-GICs (glioma-initiating cells) and GICs. The increase in the expression of p-JNK with pUC treatment was...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.02.008
更新日期：2014-05-01 00:00:00
abstract：:Understanding the complex mechanisms that govern the fate decisions of human embryonic stem cells (hESCs) is fundamental to their use in cell replacement therapies. The progress of dissecting these mechanisms will be facilitated by the availability of robust high-throughput screening assays on hESCs. In this study, we...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2010.04.006
更新日期：2010-09-01 00:00:00
abstract：:The conventional method of culturing human embryonic stem cells (hESC) is on two-dimensional (2D) surfaces, which is not amenable for scale up to therapeutic quantities in bioreactors. We have developed a facile and robust method for maintaining undifferentiated hESC in three-dimensional (3D) suspension cultures on ma...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2009.02.005
更新日期：2009-05-01 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：:Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) obtained from a 60-year-old female diagnosed with sporadic amyotrophic lateral sclerosis (sALS). The iPSCs shared the same karyotype with the parent PBMCs, expressed pluripotency stem cell markers, and demonstrated tr...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101841
更新日期：2020-05-01 00:00:00
abstract：:SOX4 has been shown to promote neuronal differentiation both in the adult and embryonic neural progenitors. Ectopic SOX4 expression has also been shown to inhibit oligodendrocyte differentiation in mice, however the underlying molecular mechanisms remain poorly understood. Here we demonstrate that SOX4 regulates trans...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.10.005
更新日期：2018-12-01 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：: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：:Pluripotency is a cellular state of multiple options. Here, we highlight the potential for self-organization to contribute to stem cell fate computation. A new way of considering regulatory circuitry is presented that describes the expression of each transcription factor (TF) as a branching process that propagates thr...
journal_title：Stem cell research
pub_type： 杂志文章,评审
doi：10.1016/j.scr.2011.11.001
更新日期：2012-03-01 00:00:00
