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; HGNC:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (PubMed=30497978).
CC   Sequence variation: Mutation; HGNC; 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)
OI   CVCL_U476 ! GM08752
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 10-04-25; Version: 17
//
RX   PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037; PMCID=PMC6306395;
RA   Fog, Cathrine Kolster
RA   Zago, Paola
RA   Malini, Erika
RA   Solanko, Lukasz M.
RA   Peruzzo, Paolo
RA   Bornaes, Claus
RA   Magnoni, Raffaella
RA   Mehmedbasic, Arnela
RA   Petersen, Nikolaj Havnsoe Torp
RA   Bembi, Bruno
RA   Aerts, Johannes F.M.G.
RA   Dardis, Andrea
RA   Kirkegaard, Thomas
RT   "The heat shock protein amplifier arimoclomol improves refolding,
RT   maturation and lysosomal activity of glucocerebrosidase.";
RL   EBioMedicine 38:142-153(2018).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//