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 Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma Beatriz Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor; 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