| Cell line name |
GM00882 |
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| Synonyms |
GM-882 |
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| Accession |
CVCL_0Q46 |
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| Resource Identification Initiative |
To cite this cell line use: GM00882 (RRID:CVCL_0Q46) |
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| Comments |
Population: Caucasian; Italian.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
|
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| Disease |
Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
40Y |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00882
|
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| Cell line databases/resources |
CLO; CLO_0029628
|
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| Encyclopedic resources |
Wikidata; Q54836506
|
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| Entry history |
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| Entry creation | 10-Apr-2015 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 14 |
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