ID   CIAUi003-A
AC   CVCL_WM06
SY   BFC4; MCCIi005-A-1
DR   BioSamples; SAMEA112186036
DR   hPSCreg; CIAUi003-A
DR   Wikidata; Q95985819
RX   PubMed=31039485;
CC   From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1513; CASQ2; Simple; p.Lys180Arg (c.539A>G); ClinVar=VCV000265850; Zygosity=Heterozygous (PubMed=31039485).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148368; Catecholaminergic polymorphic ventricular tachycardia type 2
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31039485; DOI=10.1016/j.scr.2019.101450;
RA   Ross S., Holliday M., Lim S., Semsarian C.;
RT   "Characterization of the first induced pluripotent stem cell line
RT   generated from a patient with autosomal dominant catecholaminergic
RT   polymorphic ventricular tachycardia due to a heterozygous mutation in
RT   cardiac calsequestrin-2.";
RL   Stem Cell Res. 37:101450-101450(2019).
//