ID   USFi004-A
AC   CVCL_A6XG
SY   3IV6
DR   BioSamples; SAMEA8717120
DR   hPSCreg; USFi004-A
DR   Wikidata; Q107117356
RX   PubMed=34034221;
CC   From: University of South Florida; Tampa; USA.
CC   Population: Caribbean; Haitian and Caucasian.
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple; p.Asp600Valfs*56 (c.1799delA); ClinVar=VCV000202020; Zygosity=Heterozygous (PubMed=34034221).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84571; Arrhythmogenic right ventricular dysplasia
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34034221; DOI=10.1016/j.scr.2021.102398;
RA   Yang J.-J., Samal E., Burgos Angulo M., Bertalovitz A.C., McDonald T.V.;
RT   "Establishment of an arrhythmogenic right ventricular cardiomyopathy
RT   derived iPSC cell line (USFi004-A) carrying a heterozygous mutation
RT   in PKP2 (c.1799delA).";
RL   Stem Cell Res. 54:102398-102398(2021).
//