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; 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: 19-12-24; Version: 4
//
RX   PubMed=38029555; DOI=10.1016/j.scr.2023.103258;
RA   Driver, Karrison
RA   Vo, Christina
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.
RA   Clayton, Joshua 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).
//