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; 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: 19-12-24; Version: 3
//
RX   PubMed=38583293; DOI=10.1016/j.scr.2024.103410;
RA   Clayton, Joshua S.
RA   Vo, Christina
RA   Crane, Jordan
RA   Scriba, Carolin K.
RA   Saker, Safaa
RA   Larmonier, Thierry
RA   Malfatti, Edoardo
RA   Romero, Norma Beatriz
RA   Ravenscroft, Gianina
RA   Laing, Nigel G.
RA   Taylor, Rhonda 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).
//