ID   ISCRMi001-A
AC   CVCL_C6Q1
SY   hiPSC DSP hetL463Serfs*22; DSP Leu462fs; 3-0062
DR   BioSamples; SAMEA111405406
DR   hPSCreg; ISCRMi001-A
DR   Wikidata; Q117704554
RX   PubMed=36481506;
CC   From: University of Washington Institute for Stem Cell and Regenerative Medicine; Seattle; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3052; DSP; Simple; p.Leu463Serfs*22 (c.1386delT); ClinVar=VCV000922148; Zygosity=Heterozygous (PubMed=36481506).
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   47Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36481506; DOI=10.1016/j.scr.2022.102987;
RA   Loiben A., Friedman C.E., Chien W.-M., Stempien-Otero A.S., Lin S.,
RA   Yang K.-C.;
RT   "Generation of human iPSC line from an arrhythmogenic cardiomyopathy
RT   patient with a DSP protein-truncating variant.";
RL   Stem Cell Res. 66:102987-102987(2023).
//