Cellosaurus cell line USFi004-A (CVCL

Cross-references
Cell line name	USFi004-A
Synonyms	3IV6
Accession	CVCL_A6XG
Resource Identification Initiative	To cite this cell line use: USFi004-A (RRID:CVCL_A6XG)
Comments	From: University of South Florida; Tampa; USA. Population: Caribbean; Haitian and Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Asp600Valfs*56 (c.1799delA); ClinVar=VCV000202020; Zygosity=Heterozygous (PubMed=34034221).
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	Female
Age at sampling	41Y
Category	Induced pluripotent stem cell
Publications	PubMed=34034221; DOI=10.1016/j.scr.2021.102398 Yang J.-J., Samal E., Burgos Angulo M., Bertalovitz A.C., McDonald T.V. Establishment of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA). Stem Cell Res. 54:102398-102398(2021)
Cell line databases/resources	hPSCreg; USFi004-A
Biological sample resources	BioSamples; SAMEA8717120
Encyclopedic resources	Wikidata; Q107117356
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5