ID   GM02315
AC   CVCL_8A65
SY   GM-2315; FD-1
DR   BTO; BTO:0004460
DR   CLO; CLO_0032178
DR   BioSample; SAMN00807687
DR   Coriell; GM02315
DR   Wikidata; Q54837423
RX   CelloPub=CLPUB00447;
RX   PubMed=11241842;
RX   PubMed=21335555;
CC   Sequence variation: Mutation; HGNC; 735; ASAH1; Simple; p.Glu138Val (c.413A>T) (p.Glu154Val, c.461A>T); ClinVar=VCV000000092; Zygosity=Homozygous (PubMed=11241842).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   7Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=11241842; DOI=10.1002/humu.5;
RA   Bar J.K., Linke T., Ferlinz K., Neumann U., Schuchman E.H., Sandhoff K.;
RT   "Molecular analysis of acid ceramidase deficiency in patients with
RT   Farber disease.";
RL   Hum. Mutat. 17:199-209(2001).
//
RX   PubMed=21335555; DOI=10.1074/jbc.M110.163378;
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).
//