Cellosaurus logo
expasy logo

Cellosaurus GM26153 (CVCL_A2VT)

[Text version]
Cell line name GM26153
Accession CVCL_A2VT
Resource Identification Initiative To cite this cell line use: GM26153 (RRID:CVCL_A2VT)
Comments Population: Caucasian; British/Irish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:90; ACADS; Simple; p.Arg171Trp (c.511C>T) (R147W); ClinVar=VCV000003830; Zygosity=Homozygous (Coriell=GM26153).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Lys3867Thr (c.11600A>C); ClinVar=VCV000544409; Zygosity=Heterozygous (Coriell=GM26153).
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 41Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26153
Encyclopedic resources Wikidata; Q105507021
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6