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Cellosaurus GM26112 (CVCL_A2VD)

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Cell line name GM26112
Accession CVCL_A2VD
Resource Identification Initiative To cite this cell line use: GM26112 (RRID:CVCL_A2VD)
Comments Population: Caucasian; Irish/Italian.
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.Gly48Cys (c.142C>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26112).
Disease Congenital fiber-type disproportion (NCIt: C120046)
Nemaline myopathy 3 (NCIt: C129870)
Congenital fiber-type disproportion myopathy (ORDO: Orphanet_2020)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F1AD (GM29843)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26112
Encyclopedic resources Wikidata; Q105506982
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7