ID   GM16193
AC   CVCL_DA45
DR   CLO; CLO_0019358
DR   Coriell; GM16193
DR   Wikidata; Q54848353
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (Coriell=GM16193).
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Arg498Leu (c.1493G>T) (R496L); ClinVar=VCV000002980; Zygosity=Heterozygous (Coriell=GM16193).
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Arg610del (c.1826_1828GCC[1]) (c.1829_1831delGCC) (R608del); ClinVar=VCV000198093; Zygosity=Heterozygous (Coriell=GM16193).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126866; Niemann-Pick disease, type B
DI   ORDO; Orphanet_77293; Niemann-Pick disease type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 17
//
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).
//