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Cellosaurus GM25251 (CVCL_HK62)

[Text version]
Cell line name GM25251
Accession CVCL_HK62
Resource Identification Initiative To cite this cell line use: GM25251 (RRID:CVCL_HK62)
Comments Population: Caucasian.
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; p.Arg2809Ter (c.8425C>T); ClinVar=VCV001213189; Zygosity=Heterozygous (Coriell=GM25251).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8106Ter (c.24317T>A); ClinVar=VCV000551889; Zygosity=Heterozygous (Coriell=GM25251).
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_HK61 ! GM25250
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25251
Encyclopedic resources Wikidata; Q54853851
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number14