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Cellosaurus GM25854 (CVCL_HK67)

[Text version]
Cell line name GM25854
Accession CVCL_HK67
Resource Identification Initiative To cite this cell line use: GM25854 (RRID:CVCL_HK67)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7720; NEB; Simple; c.1152+1G>A; ClinVar=VCV000095104; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25854).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; c.17013+1G>T; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25854).
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_HK66 ! GM25853
Sex of cell Male
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25854
Encyclopedic resources Wikidata; Q54854028
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number14