Cellosaurus cell line GM08760 (CVCL

Cellosaurus GM08760 (CVCL_U477)

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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 Type 2 (NCIt: C227666)
Gaucher disease type 2 (ORDO: Orphanet_77260)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_F4XP (GD2-8760)

Originate from same individual

CVCL_U476 ! GM08752

Sex of cell

Male

Age at sampling

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)

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 creation

03-Feb-2014

Last entry update

22-Oct-2026

Version number