ID   GM04394
AC   CVCL_0R33
SY   GM4394
DR   CLO; CLO_0019702
DR   Coriell; GM04394
DR   Wikidata; Q54838511
RX   CelloPub=CLPUB00447;
RX   PubMed=2464926;
RX   PubMed=6593712;
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (Coriell=GM04394).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y4M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 30-01-24; Version: 18
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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=2464926;
RA   Wigderson M., Firon N., Horowitz Z., Wilder S., Frishberg Y.,
RA   Reiner O., Horowitz M.;
RT   "Characterization of mutations in Gaucher patients by cDNA cloning.";
RL   Am. J. Hum. Genet. 44:365-377(1989).
//
RX   PubMed=6593712; DOI=10.1073/pnas.81.20.6506;
RA   Beutler E., Kuhl W., Sorge J.;
RT   "Cross-reacting material in Gaucher disease fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 81:6506-6510(1984).
//
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).
//