Cellosaurus cell line HPIi009-A (CVCL

Cross-references
Cell line name	HPIi009-A
Synonyms	RYR1-15377-R1B
Accession	CVCL_D6KI
Resource Identification Initiative	To cite this cell line use: HPIi009-A (RRID:CVCL_D6KI)
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.Asn1346Lys (c.4038C>A); ClinVar=VCV000290117; 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	Male
Age at sampling	28Y
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; HPIi009-A
Biological sample resources	BioSamples; SAMEA115133464
Encyclopedic resources	Wikidata; Q127381784
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3