ID   GM08760
AC   CVCL_U477
DR   CLO; CLO_0010491
DR   BioSample; SAMN00798166
DR   Coriell; GM08760
DR   Wikidata; Q54843267
RX   CelloPub=CLPUB00447;
RX   PubMed=30497978;
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=30497978).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (PubMed=30497978).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_U476 ! GM08752
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 15
//
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=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).
//