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Cellosaurus GM02771 (CVCL_4N32)

[Text version]
Cell line name GM02771
Accession CVCL_4N32
Resource Identification Initiative To cite this cell line use: GM02771 (RRID:CVCL_4N32)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4296; GLA; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000167140; Zygosity=Heterozygous (PubMed=29982630).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM02771
Cell line databases/resources CLO; CLO_0014798
Biological sample resources BioSample; SAMN00808100
Encyclopedic resources Wikidata; Q54837679
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number11