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Cellosaurus HPIi007-A (CVCL_D6KG)

[Text version]
Cell line name HPIi007-A
Synonyms RYR1-6546-R3B
Accession CVCL_D6KG
Resource Identification Initiative To cite this cell line use: HPIi007-A (RRID:CVCL_D6KG)
Comments From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
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.Val2168Met (c.6502G>A); ClinVar=VCV000012976; 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 40Y
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; HPIi007-A
Biological sample resources BioSamples; SAMEA115133462
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1