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Cellosaurus GM25497 (CVCL_HK64)

[Text version]
Cell line name GM25497
Accession CVCL_HK64
Resource Identification Initiative To cite this cell line use: GM25497 (RRID:CVCL_HK64)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8168Phefs*13 (c.24502_24503dupAA) (p.Leu6277Phefs*13, c.18829_18830dupAA); ClinVar=VCV000855559; Zygosity=Heterozygous (Coriell=GM25497).
Disease Nemaline myopathy 2 (NCIt: C118784)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25497
Encyclopedic resources Wikidata; Q54853988
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11