Cellosaurus logo
expasy logo

Cellosaurus HPIi005-B (CVCL_D0FC)

[Text version]
Cell line name HPIi005-B
Synonyms RYR1-5-9214-iPSC clone R11
Accession CVCL_D0FC
Resource Identification Initiative To cite this cell line use: HPIi005-B (RRID:CVCL_D0FC)
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_D0FB ! HPIi005-A
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; HPIi005-B
Biological sample resources BioSamples; SAMEA114563044
Encyclopedic resources Wikidata; Q123031685
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3