ID   SCVIi003-A
AC   CVCL_A5FW
SY   SCVI-385; SCVI 385; SCVI385
DR   hPSCreg; SCVIi003-A
DR   Wikidata; Q107116871
RX   PubMed=33743362;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple; p.His733Alafs*8 (c.2197_2202delinsG) (p.His689fs, c.2065_2070delinsG); ClinVar=VCV000045063; Zygosity=Heterozygous (PubMed=33743362).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C173471; Familial arrhythmogenic right ventricular dysplasia 9
DI   ORDO; Orphanet_217656; Familial isolated arrhythmogenic right ventricular dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33743362; DOI=10.1016/j.scr.2021.102284;
RA   Jahng J.W.S., Black K.E., Liu L.-C., Bae H.R., Perez M., Ashley E.A.,
RA   Sallam K., Wu J.C.;
RT   "Generation of three induced pluripotent stem cell lines, SCVIi003-A,
RT   SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by
RT   heterozygous mutations in the PKP2 gene.";
RL   Stem Cell Res. 53:102284-102284(2021).
//