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Cellosaurus HPIi008-A (CVCL_D6KH)

[Text version]
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; 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
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)

Cross-references
Cell line databases/resources hPSCreg; HPIi008-A
Biological sample resources BioSamples; SAMEA115133463
Encyclopedic resources Wikidata; Q127381783
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2