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Cellosaurus YAHKMUi001-A (CVCL_WU87)

[Text version]

Cell line name YAHKMUi001-A
Accession CVCL_WU87
Resource Identification Initiative To cite this cell line use: YAHKMUi001-A (RRID:CVCL_WU87)
Comments From: Yan'an Affiliated Hospital of Kunming Medical University; Kunming; China.
Population: Chinese.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations Mutation; HGNC; 11592; TBX1; Simple; p.Gly310Ser (c.928G>A); ClinVar=VCV000007564; Zygosity=Heterozygous (PubMed=31869684).
Disease Tetralogy of Fallot (NCIt: C84505)
Tetralogy of Fallot (ORDO: Orphanet_3303)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=31869684; DOI=10.1016/j.scr.2019.101687
Han S., Zhang Y.-Y., Meng M.-Y., Hou Z.-L., Meng P., Zhao Y.-Y., Gao H., Tang J., Liu Z., Yang L.-L., Jiang L.-H., Li Y.-X.
Generation of human iPSC line from a patient with tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene.
Stem Cell Res. 42:101687-101687(2020)

Cross-references
Cell line databases/resources hPSCreg; YAHKMUi001-A
SKIP; SKIP005605
Encyclopedic resources Wikidata; Q98136371
Entry history
Entry creation05-Jul-2019
Last entry update16-Dec-2021
Version number7