ID   GM10870
AC   CVCL_0R36
DR   CLO; CLO_0024129
DR   BioSample; SAMN00800300
DR   Coriell; GM10870
DR   Wikidata; Q54844708
RX   CelloPub=CLPUB00447;
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (Coriell=GM10870).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   63Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 20
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RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751;
RA   Kalman, Lisa V.
RA   Wilson, Jean Amos
RA   Buller-Burckle, Arlene M.
RA   Dixon, John
RA   Edelmann, Lisa J.
RA   Geller, Louis
RA   Highsmith, William Edward Jr.
RA   Holtegaard, Leonard M.
RA   Kornreich, Ruth
RA   Rohlfs, Elizabeth M.
RA   Payeur, Toby L.
RA   Sellers, Tina
RA   Toji, Lorraine Hellenga
RA   Muralidharan, Kasinathan
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   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//