Cellosaurus cell line XACHi007-A (CVCL

Cross-references
Cell line name	XACHi007-A
Synonyms	P1
Accession	CVCL_YM80
Resource Identification Initiative	To cite this cell line use: XACHi007-A (RRID:CVCL_YM80)
Comments	From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6240; KCNE1; Simple; p.Asp76Asn (c.226G>A); ClinVar=VCV000013477; Zygosity=Heterozygous (PubMed=32344329).
Disease	Long QT syndrome 5 (NCIt: C172094) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	8M
Category	Induced pluripotent stem cell
Publications	PubMed=32344329; DOI=10.1016/j.scr.2020.101798 Zhang Y.-M., Li H., Wang J., Wang G.-X., Tan X.-Q., Lei M. Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A) from a Chinese family with long QT syndrome type 5 with heterozygous c.226G>A (p.D76N) mutation in KCNE1 gene. Stem Cell Res. 45:101798-101798(2020)
Cell line databases/resources	hPSCreg; XACHi007-A SKIP; SKIP005748
Encyclopedic resources	Wikidata; Q98135117
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8