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Cellosaurus GM26234 (CVCL_YP69)

[Text version]
Cell line name GM26234
Accession CVCL_YP69
Resource Identification Initiative To cite this cell line use: GM26234 (RRID:CVCL_YP69)
Comments 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.Phe354Ile (c.1060T>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26234).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26234
Encyclopedic resources Wikidata; Q93932599
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number8