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Cellosaurus HPIi006-A (CVCL_D6KF)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; HPIi006-A
Biological sample resources BioSamples; SAMEA115133461
Encyclopedic resources Wikidata; Q127381780
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2