ID   GM01260
AC   CVCL_0R31
SY   GM-1260; GM1260
DR   CLO; CLO_0030921
DR   BioSample; SAMN00803778
DR   Coriell; GM01260
DR   Wikidata; Q54836747
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2464926;
RX   PubMed=6593712;
RX   PubMed=30497978;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=30497978).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Pro454Arg (c.1361C>G) (P415R); ClinVar=VCV000004289; 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   11M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 02-05-24; Version: 18
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=2464926; PMCID=PMC1715434;
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; PMCID=PMC391953;
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; PMCID=PMC6306395;
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).
//