ID   GM20017
AC   CVCL_8A71
SY   FD-2
DR   BTO; BTO_0004640
DR   CLO; CLO_0028364
DR   Coriell; GM20017
DR   Wikidata; Q54850781
RX   PubMed=21335555;
CC   Sequence variation: Mutation; HGNC; HGNC:735; ASAH1; Simple; c.1098+1G>T (IVS13+1G>T) (p.Asn348_Lys366del); ClinVar=VCV000812507; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM20017).
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   Male
AG   0-3Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
//
RX   PubMed=21335555; DOI=10.1074/jbc.M110.163378; PMCID=PMC3075676;
RA   Jenkins R.W., Clarke C.J., Canals D., Snider A.J., Gault C.R.,
RA   Heffernan-Stroud L., Wu B.X., Simbari F., Roddy P., Kitatani K.,
RA   Obeid L.M., Hannun Y.A.;
RT   "Regulation of CC ligand 5/RANTES by acid sphingomyelinase and acid
RT   ceramidase.";
RL   J. Biol. Chem. 286:13292-13303(2011).
//