Cellosaurus cell line XACHi015-A (CVCL

Cross-references
Cell line name	XACHi015-A
Accession	CVCL_B0GT
Resource Identification Initiative	To cite this cell line use: XACHi015-A (RRID:CVCL_B0GT)
Comments	From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Pro605Leu (c.1814C>T); ClinVar=VCV000067284; Zygosity=Heterozygous (PubMed=34438161).
Disease	Long QT syndrome 2 (NCIt: C137957) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=34438161; DOI=10.1016/j.scr.2021.102509 Tao Wang, Ya-Fei Zhou, Rui Zhou, Wen-Jun Huang, Jie Wang, Huan Li, Ming Lei, Xiao-Qiu Tan, Yan-Min Zhang; Generation of induced pluripotent stem cells (iPSCs) from a Chinese infant (XACHi015-A) with type 2 long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2. Stem Cell Res. 56:102509-102509(2021)
Cell line databases/resources	hPSCreg; XACHi015-A
Encyclopedic resources	Wikidata; Q108821532
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5