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Cellosaurus HPIi005-A (CVCL_D0FB)

[Text version]
Cell line name HPIi005-A
Synonyms RYR1-5-9214-iPSC clone R5
Accession CVCL_D0FB
Resource Identification Initiative To cite this cell line use: HPIi005-A (RRID:CVCL_D0FB)
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.Asn4715_Asp4718del (c.14145_14156delCTACTGGGACAA); Zygosity=Heterozygous (PubMed=38029555).
Disease Central core disease (NCIt: C83010)
Central core disease (ORDO: Orphanet_597)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0FC ! HPIi005-B
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell

PubMed=38029555; DOI=10.1016/j.scr.2023.103258
Driver K., Vo C., Scriba C.K., Saker S., Larmonier T., Malfatti E., Romero N.B., Ravenscroft G., Laing N.G., Taylor R.L., Clayton J.S.
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Stem Cell Res. 73:103258-103258(2023)

Cell line databases/resources hPSCreg; HPIi005-A
Biological sample resources BioSamples; SAMEA114562801
Encyclopedic resources Wikidata; Q123031684
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3