Cellosaurus cell line WCHi002-A (CVCL

Cellosaurus WCHi002-A (CVCL_C0NL)

Cross-references
Cell line name	WCHi002-A
Accession	CVCL_C0NL
Resource Identification Initiative	To cite this cell line use: WCHi002-A (RRID:CVCL_C0NL)
Comments	From: West China Hospital, Sichuan university; Chengdu; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Gly2948Ser (c.8842G>A); ClinVar=VCV000432055; Zygosity=Heterozygous (PubMed=35924034; PubMed=36535090).
Disease	Arrhythmogenic right ventricular dysplasia (NCIt: C84571) Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=35924034; DOI=10.3389/fmed.2022.922347; PMCID=PMC9339636 Wang Y., Fang Y.-B., Zhang D., Li Y.-F., Luo S.-H. A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: a case report and literature review. Front. Med. 9:922347.1-922347.11(2022) PubMed=36535090; DOI=10.1016/j.scr.2022.102999 Wang Y., Fang Y.-B., Wang Y.-B., Xia S.-T., Zhang D.-H., An Q., Li Y.-F., Luo S.-H. Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene. Stem Cell Res. 66:102999-102999(2023)
Cell line databases/resources	hPSCreg; WCHi002-A
Biological sample resources	BioSamples; SAMEA110218992
Encyclopedic resources	Wikidata; Q112930558
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5