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Cellosaurus GM25853 (CVCL_HK66)

[Text version]
Cell line name GM25853
Accession CVCL_HK66
Resource Identification Initiative To cite this cell line use: GM25853 (RRID:CVCL_HK66)
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.1152+1G>A; ClinVar=VCV000095104; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25853).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; c.17013+1G>T; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25853).
Disease Nemaline myopathy 2 (NCIt: C118784)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_HK67 ! GM25854
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25853
Encyclopedic resources Wikidata; Q54854027
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13