ID   GM10915
AC   CVCL_0R39
DR   CLO; CLO_0023326
DR   BioSample; SAMN00800338
DR   Coriell; GM10915
DR   Wikidata; Q54844733
RX   CelloPub=CLPUB00447;
RX   PubMed=30497978;
RX   PubMed=36130205;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (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)
SX   Male
AG   7Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 02-05-24; Version: 14
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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).
//
RX   PubMed=36130205; DOI=10.1093/hmg/ddac233;
RA   Smith L.J., Bolsinger M.M., Chau K.-Y., Gegg M.E., Schapira A.H.V.;
RT   "The GBA variant E326K is associated with alpha-synuclein aggregation
RT   and lipid droplet accumulation in human cell lines.";
RL   Hum. Mol. Genet. 32:773-789(2023).
//