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Cellosaurus GM26117 (CVCL_A2VI)

[Text version]
Cell line name GM26117
Accession CVCL_A2VI
Resource Identification Initiative To cite this cell line use: GM26117 (RRID:CVCL_A2VI)
Comments Population: Caucasian; Lithuanian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Asn94Lys (c.282C>A); ClinVar=VCV000948238; Zygosity=Heterozygous (Coriell=GM26117).
  • Mutation; HGNC; HGNC:8140; OPA1; Simple; p.Ile382Met (c.1146A>G); ClinVar=VCV000050866; Zygosity=Heterozygous (Coriell=GM26117).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Glu3212Gly (c.9635A>G); ClinVar=VCV000329090; Zygosity=Heterozygous (Coriell=GM26117).
  • Mutation; HGNC; HGNC:11831; TK2; Simple; p.Arg183Trp (c.547C>T); ClinVar=VCV000038992; Zygosity=Heterozygous (Coriell=GM26117).
Disease Congenital fiber-type disproportion (NCIt: C120046)
Congenital fiber-type disproportion myopathy (ORDO: Orphanet_2020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26117
Encyclopedic resources Wikidata; Q105506997
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7