ID   HPIi007-A
AC   CVCL_D6KG
SY   RYR1-6546-R3B
DR   BioSamples; SAMEA115133462
DR   hPSCreg; HPIi007-A
DR   Wikidata; Q127381782
RX   PubMed=38583293;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Val2168Met (c.6502G>A); ClinVar=VCV000012976; 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   40Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
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).
//