Cellosaurus cell line YAHKMUi001-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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 Shen Han, Ya-Yong Zhang, Ming-Yao Meng, Zong-Liu Hou, Ping Meng, Yi-Yi Zhao, Hui Gao, Jian Tang, Zu Liu, Li-Li Yang, Li-Hong Jiang, Ya-Xiong Li; 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)
Cell line databases/resources	hPSCreg; YAHKMUi001-A SKIP; SKIP005605
Encyclopedic resources	Wikidata; Q98136371
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	10