ID   GM20016
AC   CVCL_8A70
DR   CLO; CLO_0028363
DR   Coriell; GM20016
DR   Wikidata; Q54850780
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:735; ASAH1; Simple; p.Asn320Asp (c.958A>G) (p.Asn336Asp, c.1006A>G); ClinVar=VCV000000094; Zygosity=Homozygous (Coriell=GM20016).
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   0-3Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
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