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Cellosaurus GM20018 (CVCL_8A72)

[Text version]
Cell line name GM20018
Accession CVCL_8A72
Resource Identification Initiative To cite this cell line use: GM20018 (RRID:CVCL_8A72)
Comments Population: Caucasian; Belgian.
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.Thr222Lys (c.665C>A) (p.Thr238Lys, c.713C>A); ClinVar=VCV000000091; Zygosity=Homozygous (Coriell=GM20018).
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 0-2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20018
Cell line databases/resources CLO; CLO_0028362
Encyclopedic resources Wikidata; Q54850782
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11