Cellosaurus cell line GM02775 (CVCL

Cellosaurus GM02775 (CVCL_0Q52)

Cross-references
Cell line name	GM02775
Accession	CVCL_0Q52
Resource Identification Initiative	To cite this cell line use: GM02775 (RRID:CVCL_0Q52)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:4296; GLA; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000167140; Zygosity=Hemizygous (PubMed=29982630).
Disease	Fabry disease (NCIt: C84701) Fabry disease (ORDO: Orphanet_324)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	16Y
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=29982630; DOI=10.1093/hmg/ddy248; PMCID=PMC6140777 Richard W.D. Welford, Andreas Muhlemann, Marco Garzotti, Vanessa Rickert, Peter M.A. Groenen, Olivier H. Morand, Nurcan Uceyler, Markus R. Probst; Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. Hum. Mol. Genet. 27:3392-3403(2018)
Cell line collections (Providers)	Coriell; GM02775
Cell line databases/resources	CLO; CLO_0014787
Biological sample resources	BioSample; SAMN00808106
Encyclopedic resources	Wikidata; Q54837682
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	13