ID   GM01607
AC   CVCL_7326
SY   GM-1607; GM1607
DR   CLO; CLO_0003521
DR   CLO; CLO_0031565
DR   CLDB; cl1488
DR   BioSample; SAMN00806969
DR   Coriell; GM01607
DR   Wikidata; Q54836944
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2464926;
RX   PubMed=6593712;
RX   PubMed=19815695;
RX   PubMed=30497978;
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 (PubMed=19815695; PubMed=30497978).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Val433Leu (c.1297G>T) (V394L); ClinVar=VCV000004292; Zygosity=Heterozygous (PubMed=19815695; PubMed=30497978).
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   30Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 25
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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).
//
RX   PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037;
RA   Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C.,
RA   Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G.,
RA   Dardis A., Kirkegaard T.;
RT   "The heat shock protein amplifier arimoclomol improves refolding,
RT   maturation and lysosomal activity of glucocerebrosidase.";
RL   EBioMedicine 38:142-153(2018).
//