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Cellosaurus GM25173 (CVCL_HK60)

[Text version]
Cell line name GM25173
Accession CVCL_HK60
Resource Identification Initiative To cite this cell line use: GM25173 (RRID:CVCL_HK60)
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; c.3255+1G>A; ClinVar=VCV000449502; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25173).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Arg8218Serfs*9 (c.24650_24651AG[2]) (c.24654_24655delAG) (p.Arg6327Serfs*9, c.18977_18978AG[2]); ClinVar=VCV000552108; Zygosity=Heterozygous (Coriell=GM25173).
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 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25173
Encyclopedic resources Wikidata; Q54853838
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12