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; 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: 19-12-24; Version: 19
CH   CVCL_RM15 ! CET.IPS.FFGAU-500
//
RX   PubMed=2464926; PMCID=PMC1715434;
RA   Wigderson, Meir
RA   Firon, Nurit
RA   Horowitz, Zeev
RA   Wilder, Sylvia
RA   Frishberg, Yaakov
RA   Reiner, Orly
RA   Horowitz, Mia
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; PMCID=PMC391953;
RA   Beutler, Ernest
RA   Kuhl, Wanda
RA   Sorge, Joseph
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; 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).
//