ID   GM02627
AC   CVCL_0R32
SY   GM2627
DR   CLO; CLO_0032673
DR   Coriell; GM02627
DR   Wikidata; Q54837589
RX   CelloPub=CLPUB00447;
RX   PubMed=2464926;
RX   PubMed=6593712;
RX   PubMed=30497978;
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Gly364Arg (c.1090G>A) (G325R); ClinVar=VCV000004318; Zygosity=Heterozygous (PubMed=30497978).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Cys381Gly (c.1141T>G) (C342G); ClinVar=VCV000004319; Zygosity=Heterozygous (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   Female
AG   3Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 29-06-23; Version: 16
//
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=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).
//