Cellosaurus cell line SCVIi005-A (CVCL

Cross-references
Cell line name	SCVIi005-A
Synonyms	SCVI-740; SCVI 740; SCVI740
Accession	CVCL_A5FY
Resource Identification Initiative	To cite this cell line use: SCVIi005-A (RRID:CVCL_A5FY)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: East Asian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Arg577Aspfs*5 (c.1725_1728dupGATG); ClinVar=VCV000406551; Zygosity=Heterozygous (PubMed=33743362).
Disease	Familial arrhythmogenic right ventricular dysplasia 9 (NCIt: C173471) Familial isolated arrhythmogenic right ventricular dysplasia (ORDO: Orphanet_217656)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	44Y
Category	Induced pluripotent stem cell
Publications	PubMed=33743362; DOI=10.1016/j.scr.2021.102284; PMCID=PMC8457924 Jahng J.W.S., Black K.E., Liu L.-C., Bae H.R., Perez M., Ashley E.A., Sallam K., Wu J.C. Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene. Stem Cell Res. 53:102284-102284(2021)
Cell line databases/resources	hPSCreg; SCVIi005-A
Encyclopedic resources	Wikidata; Q107116873
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5