ID   HPIi006-A
AC   CVCL_D6KF
SY   RYR1-3278-R2A
DR   BioSamples; SAMEA115133461
DR   hPSCreg; HPIi006-A
DR   Wikidata; Q127381780
RX   PubMed=38583293;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian; French.
CC   Sequence variation: Mutation; HGNC; 10483; RYR1; Simple; p.Arg2508Cys (c.7522C>T); ClinVar=VCV000065981; Zygosity=Heterozygous (PubMed=38583293).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C83010; Central core disease
DI   NCIt; C84869; Malignant hyperthermia syndrome
DI   ORDO; Orphanet_597; Central core disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38583293; DOI=10.1016/j.scr.2024.103410;
RA   Clayton J.S., Vo C., Crane J., Scriba C.K., Saker S., Larmonier T.,
RA   Malfatti E., Romero N.B., Ravenscroft G., Laing N.G., Taylor R.L.;
RT   "Generation of two iPSC lines from patients with inherited central
RT   core disease and concurrent malignant hyperthermia caused by dominant
RT   missense variants in the RYR1 gene.";
RL   Stem Cell Res. 77:103410-103410(2024).
//