| 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 |
|---|
| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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
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) |
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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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