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 newhuman inducedpluripotentstem cell (iPSC) line (SDUKIi004-A) generated from skin fibroblasts derived from a 21-year old male patient diagnosed with Pervasive DevelopmentalDisorder-Not Otherwise Specified (PDD-NOS)("FYNEN-cohort"). Reprogramming of the fibroblasts was accomplished using integration-free episomal plasmids. Characterization validated the expression of pluripotency markers, differentiation into the three germ layers, and absence of chromosomal abnormalities.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Kamand M,Ilieva M,Forsberg SL,Thomassen M,Svenningsen ÅF,Meyer M,Michel TMdoi
10.1016/j.scr.2020.102038subject
Has Abstractpub_date
2020-12-01 00:00:00pages
102038eissn
1873-5061issn
1876-7753pii
S1873-5061(20)30339-1journal_volume
49pub_type
杂志文章abstract：:The peptide hormone insulin produced by pancreatic β-cells undergoes post-transcriptional processing before secretion. In particular, C-peptide is cleaved from pro-insulin to generate mature insulin. Here, we introduce a C-peptide-mCherry human iPSC line (HMGUi001-A-8). The line was generated by CRISPR/Cas9 mediated h...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102126
更新日期：2020-12-16 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 human transcription factor NKX2-5 plays an important role in cardiac formation and development, and thus it can be used for isolation of cardiomyocytes (CMs) differentiated from human pluripotent stem cells (hPSCs). Here, we knocked-in enhanced GFP (eGFP) and Pac (a puromycin resistant gene; PuroR) into the exon 1...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102120
更新日期：2020-12-10 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：: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：: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：:Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. This cell line c...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2017.12.009
更新日期：2018-03-01 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：:We have generated a human induced pluripotent stem cell (iPSC) line derived from urinary cells of a 10years 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. ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.04.004
更新日期：2018-05-01 00:00:00
abstract：:Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries compound mutations R608X E888X in GAA gene. PBMCs were reprogrammed us...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101621
更新日期：2019-12-01 00:00:00
abstract：:Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of the liver metabolism due to functional deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in overproduction of oxalate which complexes with calcium to form insoluble calcium-oxalate salts in...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101467
更新日期：2019-07-01 00:00:00
abstract：:Insulin-like growth factor 1 (IGF-1) plays an important role in the regulation of tooth root development, and stem cells from apical papilla (SCAPs) are responsible for the formation of root pulp and dentin. To date, it remains unclear whether IGF-1 can regulate the function of SCAPs. In this study, SCAPs were isolate...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2011.12.005
更新日期：2012-05-01 00:00:00
abstract：:Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 an...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.02.040
更新日期：2016-05-01 00:00:00
abstract：: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 stability, and the transgene-...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.04.015
更新日期：2018-05-01 00:00:00
abstract：:Hematopoietic stem and progenitor cell (HSPC) transplantation is the paradigm for stem cell therapies. The protocol described here enables quantitative assessment of the body-wide HSPC reconstitution of different mature hematopoietic cells in mice based on their presence in circulating blood. The method determines don...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102145
更新日期：2020-12-29 00:00:00
abstract：:Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by t...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.09.011
更新日期：2016-09-01 00:00:00
abstract：:Derivation of induced pluripotent stem (iPS) cells is mainly an epigenetic reprogramming process. It is still quite controversial how genomic imprinting is reprogrammed in iPS cells. Thus, we derived multiple iPS clones from genetically identical mouse somatic cells. We found that parentally inherited imprint was vari...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.05.011
更新日期：2013-09-01 00:00:00
abstract：:To develop cell therapies for damaged nervous tissue with human neural stem/progenitor cells (hNPCs), the risk of an immune response and graft rejection must be considered. There are conflicting results and lack of knowledge concerning the immunocompetence of hNPCs of different origin. Here, we studied the immunogenic...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.01.001
更新日期：2013-05-01 00:00:00
abstract：:Conditioned medium (CM) derived from engineered cells often facilitates the cost-effective culture of a variety of stem cells. Growing emphasis on the importance of rigor and reproducibility in lab-based science requires development of best practices approaches, including quality control procedures for the assessment ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101430
更新日期：2019-05-01 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：: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：:The KCL018 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting one allele of the DMPK gene encoding the dystrophia myotonica protein kinase (2200 trinucleotide repeats; 14 for the normal allele). The ICM was isolated using laser microsurg...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.01.004
更新日期：2016-03-01 00:00:00
abstract：:Novel and complementary experimental models are required for investigating the molecular mechanisms underlying the resistance to the available therapies of patients with major depression (Treatment-Resistant Depression, TRD) that occurs in at least one third of patients and need to be deeply investigated. Here, we hav...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102104
更新日期：2020-12-01 00:00:00
abstract：:Mouse embryonic stem cell (mESC) lines were derived by crossing heterozygous transgenic (tg) mice expressing green fluorescent protein (GFP) under the control of the rat tyrosine hydroxylase (TH) promoter, with homozygous alpha-synuclein (aSYN) mice expressing human mutant SNCAA53T under the control of the mouse Prion...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.12.026
更新日期：2017-03-01 00:00:00
abstract：:Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying two mutations in plakophilin-2 (PKP2) gene using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. Pluripotency was confirmed i...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2017.08.014
更新日期：2017-10-01 00:00:00
abstract：:Human embryonic stem cells (hESCs) offer new avenues for studying human development and disease progression in addition to their tremendous potential toward development of cell-replacement therapies for various cellular disorders. We have earlier reported the derivation and characterization of Relicell(®) hES1, the fi...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2010.07.001
更新日期：2010-11-01 00:00:00
abstract：:The Mesenchymal-to-Epithelial Transition (MET) has been recognized as a crucial step for successful reprogramming of fibroblasts to induced pluripotent stem cells (iPSCs). Thus, it has been demonstrated, that the efficiency of reprogramming can be enhanced by promoting an epithelial expression program in cells, with a...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.11.003
更新日期：2015-01-01 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：: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：: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
