Cellosaurus cell line HPIi008-A (CVCL

Cross-references
Cell line name	HPIi008-A
Synonyms	RYR1-4833-R7
Accession	CVCL_D6KH
Resource Identification Initiative	To cite this cell line use: HPIi008-A (RRID:CVCL_D6KH)
Comments	From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia. Population: Caucasian. 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.His4813Tyr (c.14437C>T); ClinVar=VCV001180698; Zygosity=Heterozygous (PubMed=38582058).
Disease	Central core disease (NCIt: C83010) Central core disease (ORDO: Orphanet_597)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	29Y
Category	Induced pluripotent stem cell
Publications	PubMed=38582058; DOI=10.1016/j.scr.2024.103411 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 adult central core disease patients with dominant missense variants in the RYR1 gene. Stem Cell Res. 77:103411-103411(2024)
Cell line databases/resources	hPSCreg; HPIi008-A
Biological sample resources	BioSamples; SAMEA115133463
Encyclopedic resources	Wikidata; Q127381783
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3