Cellosaurus cell line HPIi006-A (CVCL

Cellosaurus HPIi006-A (CVCL_D6KF)

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 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 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