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Cellosaurus GM26114 (CVCL_A2VF)

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Cell line name GM26114
Accession CVCL_A2VF
Resource Identification Initiative To cite this cell line use: GM26114 (RRID:CVCL_A2VF)
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.Asp27Asn (c.79G>A); ClinVar=VCV003068434; Zygosity=Heterozygous (Coriell=GM26114).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Arg1894Gly (c.5680A>G); ClinVar=VCV000465617; Zygosity=Heterozygous (Coriell=GM26114).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; p.Pro4678Arg (c.14033C>G) (p.Pro3751Arg, c.11252C>G) (p.Pro4995Arg, c.14984C>G); ClinVar=VCV000046595; Zygosity=Heterozygous (Coriell=GM26114).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; p.Val5118Met (c.15352G>A) (p.Val4191Met, c.12571G>A) (p.Val5435Met, c.16303G>A); ClinVar=VCV000046614; Zygosity=Heterozygous (Coriell=GM26114).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26114
Encyclopedic resources Wikidata; Q105506986
Entry history
Entry creation12-Jan-2021
Last entry update14-Aug-2025
Version number7