Cellosaurus cell line GM08760 (CVCL

Cellosaurus GM08760 (CVCL_U477)

Cross-references
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; HGNC:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (PubMed=30497978). Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (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 Richard A. Mulivor, Sharon F. Suchy; 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 Cathrine Kolster Fog, Paola Zago, Erika Malini, Lukasz M. Solanko, Paolo Peruzzo, Claus Bornaes, Raffaella Magnoni, Arnela Mehmedbasic, Nikolaj Havnsoe Torp Petersen, Bruno Bembi, Johannes F.M.G. Aerts ...Show all 13 authors... , Andrea Dardis, Thomas Kirkegaard; Show fewer authors The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase. EBioMedicine 38:142-153(2018)
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 creation	03-Feb-2014
Last entry update	10-Apr-2025
Version number	17