ID   GM20019
AC   CVCL_8A73
DR   CLO; CLO_0028341
DR   Coriell; GM20019
DR   Wikidata; Q54850783
CC   Sequence variation: Mutation; HGNC; HGNC:735; ASAH1; Simple; p.Gly128_Lys152del (c.412G>T); Zygosity=Heterozygous (Coriell=GM20019).
CC   Sequence variation: Mutation; HGNC; HGNC:735; ASAH1; Simple; p.Asp331Asn (c.991G>A) (p.Asp347Asn, c.1039G>A); ClinVar=VCV000812495; Zygosity=Heterozygous (Coriell=GM20019).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84710; Farber lipogranulomatosis
DI   ORDO; Orphanet_333; Farber disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
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