Cellosaurus cell line GM02775 (CVCL

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 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=29982630; DOI=10.1093/hmg/ddy248; PMCID=PMC6140777 Welford R.W.D., Muhlemann A., Garzotti M., Rickert V., Groenen P.M.A., Morand O.H., Uceyler N., Probst M.R. 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