ID   YAHKMUi001-A
AC   CVCL_WU87
DR   hPSCreg; YAHKMUi001-A
DR   SKIP; SKIP005605
DR   Wikidata; Q98136371
RX   PubMed=31869684;
CC   From: Yan'an Affiliated Hospital of Kunming Medical University; Kunming; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 11592; TBX1; Simple; p.Gly310Ser (c.928G>A); ClinVar=VCV000007564; Zygosity=Heterozygous (PubMed=31869684).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84505; Tetralogy of Fallot
DI   ORDO; Orphanet_3303; Tetralogy of Fallot
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31869684; DOI=10.1016/j.scr.2019.101687;
RA   Han S., Zhang Y.-Y., Meng M.-Y., Hou Z.-L., Meng P., Zhao Y.-Y., Gao H.,
RA   Tang J., Liu Z., Yang L.-L., Jiang L.-H., Li Y.-X.;
RT   "Generation of human iPSC line from a patient with tetralogy of
RT   Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene.";
RL   Stem Cell Res. 42:101687-101687(2020).
//