ID   GM13205
AC   CVCL_AX25
SY   NPD-1
DR   BTO; BTO:0004931
DR   CLO; CLO_0013203
DR   Coriell; GM13205
DR   Wikidata; Q54846381
RX   PubMed=19815695;
RX   PubMed=21335555;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Phe333Serfs*52 (c.996delC) (P330fs, 990delC); ClinVar=VCV000002990; Zygosity=Heterozygous (Coriell=GM13205).
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   Female
AG   2Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 30-01-24; Version: 12
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050;
RA   Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J.,
RA   Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M.,
RA   Payeur T.L., Sellers T., Toji L.H., Muralidharan K.;
RT   "Development of genomic DNA reference materials for genetic testing of
RT   disorders common in people of Ashkenazi Jewish descent.";
RL   J. Mol. Diagn. 11:530-536(2009).
//
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).
//