ID   UKJi001-A
AC   CVCL_E7UQ
SY   PKP2-hiPSC
DR   BioSamples; SAMEA115717852
DR   hPSCreg; UKJi001-A
RX   PubMed=39332132;
CC   From: Klinik fur Innere Medizin I (KIM I), Universitatsklinikum Jena (UKJ); Jena; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Gln62Ter (c.184C>T); Zygosity=Heterozygous (PubMed=39332132).
CC   Donor information: At sampling donor was not affected with ARVC.
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   32Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=39332132; DOI=10.1016/j.scr.2024.103565;
RA   Bekhite M.M., Hubner S., Kretzschmar T., Backsch C., Weise A., Klein E.,
RA   Bogoviku J., Westphal J.G., Schulze P.C.;
RT   "Generation of human induced pluripotent stem cell lines UKJi001-A and
RT   UKJi006-A from patients with heterozygous mutation in the PKP2 gene.";
RL   Stem Cell Res. 81:103565-103565(2024).
//