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. The generated transgene-free line iPS-SPG4-splice retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG4-splice line might be a useful platform to study the pathomechanism of SPG4.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Hauser S,Erzler M,Theurer Y,Schuster S,Schüle R,Schöls Ldoi
10.1016/j.scr.2016.09.022subject
Has Abstractpub_date
2016-11-01 00:00:00pages
485-488issue
3eissn
1873-5061issn
1876-7753pii
S1873-5061(16)30139-8journal_volume
17pub_type
杂志文章abstract：:Liver progenitor (oval) cells have enormous potential in the treatment of patients with liver disease using a cell therapy approach, but their use is limited by their scarcity and the number of donor livers from which they can be derived. Bone marrow may be a suitable source. Previously the derivation of oval cells fr...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2008.05.004
更新日期：2008-09-01 00:00:00
abstract：:Peripheral 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, e...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101661
更新日期：2019-12-01 00:00:00
abstract：:Human FOXH1 (Forkhead Box H1) gene encodes a human homolog of Xenopus forkhead activing signal transducer-1 and has been shown to play an important role in mesendoderm formation in X. tropicalis and mice. However, little is known about the function of FOXH1 in human development. Here we generated a FOXH1 homozygous kn...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102121
更新日期：2020-12-10 00:00:00
abstract：:Niemann-Pick disease type A (NPA) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for the protein acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 21-fetal-week-old female patient with NPA th...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101461
更新日期：2019-07-01 00:00:00
abstract：:Human iPSC line, iPSC-ADM01(SYSUi001-A), was generated from a 70-year-old male patient with sporadic Alzheimer's disease, using non-integrative reprogramming method. This cell line shows pluripotency both in vitro and in vivo, and has a normal karyotype. ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.101375
更新日期：2019-03-01 00:00:00
abstract：:The purpose of this study was to isolate cancer stem cells (CSCs, also called tumor-initiating cells, TICs) from established human colorectal carcinoma (CRC) cell lines, characterize them extensively and dissect the mechanism for their stemness. Freshly isolated CD44(+) and CD44(-) cells from the HCT-15 human colon ca...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.09.011
更新日期：2014-01-01 00:00:00
abstract：:The Genea016 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, through ICM outgrowth on inactivated human feeders. The line showed pluripotent cell morphology and genomic analysis verified a 46, XX karyotype and female Allele pattern through traditional karyotyping...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2015.11.009
更新日期：2016-01-01 00:00:00
abstract：: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 reg...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.03.017
更新日期：2018-05-01 00:00:00
abstract：:Primary hepatocyte transplantation (HTx) is a safe cell therapy for patients with liver disease, but wider application is circumvented by poor cell engraftment due to limitations in hepatocyte quality and transplantation strategies. Hepatocyte-like cells (HLCs) derived from human induced pluripotent stem cells (hiPSC)...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101599
更新日期：2019-12-01 00:00:00
abstract：:Autism is a heterogeneous neurodevelopmental disorder defined by deficits in socialization, communication, and patterns of behavior. Using stem cells to model brain disordersmay yield new understanding about the underlying neuropathological processes and could prove essential for drug development. We present here a ne...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102038
更新日期：2020-12-01 00:00:00
abstract：:Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101579
更新日期：2019-10-01 00:00:00
abstract：:Neural progenitor cells have been proposed as a therapy for central nervous system disorders, including neurodegenerative diseases and trauma injuries, however their accessibility is a major limitation. We recently isolated Tuj1+ cells from skeletal muscle culture of Nestin-GFP transgenic mice however whether they for...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2012.09.003
更新日期：2013-01-01 00:00:00
abstract：:Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. In this report, we generated an induced pluripotent stem cell (iPSCs) line, TVGH-iPSC-010-09, from the peripheral blood mononuclear cells of ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.01.029
更新日期：2018-04-01 00:00:00
abstract：:Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor β (TGFβ) pathway, LDS is associ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101707
更新日期：2020-03-01 00:00:00
abstract：: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...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.05.004
更新日期：2018-07-01 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：: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：:As one of the most essential genome guardians, p53 and its mutants have been suggested associated with many types of cancers. Many p53 mutants function induce unique phenotypes, including carcinogenesis, metastasis, and drug resistance. The p53(R249S) mutation is the most prevalent and specific mutation associated wit...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.101360
更新日期：2019-01-01 00:00:00
abstract：:Skin fibroblasts were collected from a 65-year-old male patient with sporadic Parkinson's disease. Induced pluripotent stem cells were reprogrammed with human reprogramming factors (KMOSL) using the messenger RNA reprogramming protocol. The transgene-free iPSC line showed pluripotency, displayed normal karyotype, and ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2017.07.004
更新日期：2017-08-01 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：: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：:Liver cirrhosis accompanied with hepatic encephalopathy commonly causes cognitive impairment in patients. To model this disease, two independent patient specific induced pluripotent stem cell-line (iPSC) clones, NCCSi011-A and NCCSi011-B were generated by reprogramming the CD4+ T cells of an Indian male patient suffer...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101992
更新日期：2020-10-01 00:00:00
abstract：:Extracellular signal-regulated kinases (ERKs) have many important functions during embryogenesis. However, their role in embryonic stem (ES) cells is controversial. Previous studies reported that, in contrast to mouse ES cells, human ES cells differentiate if ERK1/2 is inhibited. We reexamined the role of ERK1/2 in hu...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2010.06.002
更新日期：2010-09-01 00:00:00
abstract：:Cardiomyocyte proliferation and progenitor differentiation are endogenous mechanisms of myocardial development. Cardiomyocytes continue to proliferate in mammals for part of post-natal development. In adult mammals under homeostatic conditions, cardiomyocytes proliferate at an extremely low rate. Because the mechanism...
journal_title：Stem cell research
pub_type： 杂志文章,评审
doi：10.1016/j.scr.2014.09.003
更新日期：2014-11-01 00:00:00
abstract：:Androgen-deprivation is a mainstay of therapy for advanced prostate cancer but tumor regression is usually incomplete and temporary because of androgen-independent cells in the tumor. It has been speculated that these tumor cells resemble the stem/progenitor cells of the normal prostate. The purpose of this study was ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.04.005
更新日期：2014-07-01 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：:Human epicardium-derived cells (EPDC) were reprogrammed to generate two iPSC lines, MCDU1i-EPDC and MCDU2i-EPDC, by nucleofection of episomal-based plasmids expressing the reprogramming factors OCT4, SOX2, KLF4, c-MYC, NANOG and LIN28. Pluripotency was confirmed in vitro by immunofluorescence analysis and embryoid bod...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2017.02.007
更新日期：2017-04-01 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：: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：:Incomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related wit...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101569
更新日期：2019-10-01 00:00:00
