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Cellosaurus GM20016 (CVCL_8A70)

[Text version]
Cell line name GM20016
Accession CVCL_8A70
Resource Identification Initiative To cite this cell line use: GM20016 (RRID:CVCL_8A70)
Comments Population: Turkish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:735; ASAH1; Simple; p.Asn320Asp (c.958A>G) (p.Asn336Asp, c.1006A>G); ClinVar=VCV000000094; Zygosity=Homozygous (Coriell=GM20016).
Disease Farber lipogranulomatosis (NCIt: C84710)
Farber disease (ORDO: Orphanet_333)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 0-3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20016
Cell line databases/resources CLO; CLO_0028363
Encyclopedic resources Wikidata; Q54850780
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11