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Cellosaurus GM25336 (CVCL_HQ18)

[Text version]
Cell line name GM25336
Accession CVCL_HQ18
Resource Identification Initiative To cite this cell line use: GM25336 (RRID:CVCL_HQ18)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Gly253Asp (c.758G>A); Zygosity=Heterozygous (Coriell=GM25336).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_HQ17 ! GM25335
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25336
Encyclopedic resources Wikidata; Q54853877
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12