Cellosaurus logo
expasy logo

Cellosaurus GM08760 (CVCL_U477)

[Text version]
Cell line name GM08760
Accession CVCL_U477
Resource Identification Initiative To cite this cell line use: GM08760 (RRID:CVCL_U477)
Comments Population: Mexican.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=30497978).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (PubMed=30497978).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_U476 ! GM08752
Sex of cell Male
Age at sampling 1Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037; PMCID=PMC6306395
Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C., Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G., Dardis A., Kirkegaard T.
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
EBioMedicine 38:142-153(2018)

Cross-references
Cell line collections (Providers) Coriell; GM08760
Cell line databases/resources CLO; CLO_0010491
Biological sample resources BioSample; SAMN00798166
Encyclopedic resources Wikidata; Q54843267
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number15