ID   INEUi002-A-1
AC   CVCL_C9LG
SY   PKP2 S140F
DR   hPSCreg; INEUi002-A-1
DR   Wikidata; Q123032702
RX   PubMed=37393721;
CC   From: Instituto de Neurociencias; Buenos Aires; Argentina.
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple_edited; p.Ser140Phe (c.419C>T); ClinVar=VCV000045077; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37393721).
CC   Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
CC   Cell type: Fibroblast of foreskin; CL=CL_1001608.
DI   NCIt; C173471; Familial arrhythmogenic right ventricular dysplasia 9
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DQ93 ! INEUi002-A
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37393721; DOI=10.1016/j.scr.2023.103157;
RA   Amin G., Castaneda S.L., Zabalegui F., Belli C., Atorrasagasti C.,
RA   Miriuka S.G., Moro L.N.;
RT   "Generation of two edited iPSCs lines by CRISPR/Cas9 with point
RT   mutations in PKP2 gene for arrhythmogenic cardiomyopathy in vitro
RT   modeling.";
RL   Stem Cell Res. 71:103157-103157(2023).
//