Cellosaurus cell line HPIi006-A (CVCL

Cross-references
Cell line name	HPIi006-A
Synonyms	RYR1-3278-R2A
Accession	CVCL_D6KF
Resource Identification Initiative	To cite this cell line use: HPIi006-A (RRID:CVCL_D6KF)
Comments	From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia. Population: Caucasian; French. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg2508Cys (c.7522C>T); ClinVar=VCV000065981; Zygosity=Heterozygous (PubMed=38583293).
Disease	Central core disease (NCIt: C83010) Malignant hyperthermia syndrome (NCIt: C84869) Central core disease (ORDO: Orphanet_597)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=38583293; DOI=10.1016/j.scr.2024.103410 Clayton J.S., Vo C., Crane J., Scriba C.K., Saker S., Larmonier T., Malfatti E., Romero N.B., Ravenscroft G., Laing N.G., Taylor R.L. Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene. Stem Cell Res. 77:103410-103410(2024)
Cell line databases/resources	hPSCreg; HPIi006-A
Biological sample resources	BioSamples; SAMEA115133461
Encyclopedic resources	Wikidata; Q127381780
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3