ID   HPIi005-A
AC   CVCL_D0FB
SY   RYR1-5-9214-iPSC clone R5
DR   BioSamples; SAMEA114562801
DR   hPSCreg; HPIi005-A
DR   Wikidata; Q123031684
RX   PubMed=38029555;
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.Asn4715_Asp4718del (c.14145_14156delCTACTGGGACAA); Zygosity=Heterozygous (PubMed=38029555).
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)
OI   CVCL_D0FC ! HPIi005-B
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38029555; DOI=10.1016/j.scr.2023.103258;
RA   Driver K., Vo C., Scriba C.K., Saker S., Larmonier T., Malfatti E.,
RA   Romero N.B., Ravenscroft G., Laing N.G., Taylor R.L., Clayton J.S.;
RT   "Generation of two induced pluripotent stem cell lines from a
RT   33-year-old central core disease patient with a heterozygous dominant
RT   c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the
RT   RYR1 gene.";
RL   Stem Cell Res. 73:103258-103258(2023).
//