ID   GM20018
AC   CVCL_8A72
DR   CLO; CLO_0028362
DR   Coriell; GM20018
DR   Wikidata; Q54850782
CC   Population: Caucasian; Belgian.
CC   Sequence variation: Mutation; HGNC; HGNC:735; ASAH1; Simple; p.Thr222Lys (c.665C>A) (p.Thr238Lys, c.713C>A); ClinVar=VCV000000091; Zygosity=Homozygous (Coriell=GM20018).
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   0-2Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
//