ID   GM16195
AC   CVCL_AX26
SY   NPD-2
DR   BTO; BTO_0005285
DR   CLO; CLO_0019366
DR   Coriell; GM16195
DR   Wikidata; Q54848354
RX   PubMed=21335555;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Homozygous (Coriell=GM16195).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126561; Niemann-Pick disease, type A
DI   ORDO; Orphanet_77292; Niemann-Pick disease type A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 02-05-16; 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).
//