ID   HPIi008-A
AC   CVCL_D6KH
SY   RYR1-4833-R7
DR   BioSamples; SAMEA115133463
DR   hPSCreg; HPIi008-A
DR   Wikidata; Q127381783
RX   PubMed=38582058;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10483; RYR1; Simple; p.His4813Tyr (c.14437C>T); ClinVar=VCV001180698; Zygosity=Heterozygous (PubMed=38582058).
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   ORDO; Orphanet_597; Central core disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38582058; DOI=10.1016/j.scr.2024.103411;
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 adult central core disease patients
RT   with dominant missense variants in the RYR1 gene.";
RL   Stem Cell Res. 77:103411-103411(2024).
//