Cellosaurus logo
expasy logo

Cellosaurus HPIi005-A (CVCL_D0FB)

[Text][XML][JSON]
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; 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
Publications

PubMed=38029555; DOI=10.1016/j.scr.2023.103258
Karrison Driver, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma Beatriz Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton;
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-A
Biological sample resources BioSamples; SAMEA114562801
Encyclopedic resources Wikidata; Q123031684
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4