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Version 4.0.200811 |
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This is the complete description of the cell line that you requested.
By selecting a generic term (e.g. SPECIES) you will go to the corresponding list of controlled terms, while by selecting a specific term you will go to the list of corresponding cell line names.
Primary culture, grown as monolayer
fibroblast morphology
SPECIES: human, Caucasian (male)
TISSUE/ORGAN: skin, fibroblast
PATHOLOGY: Gaucher disease type I*230800 (OMIM record)
DEPOSITOR: Laboratorio Diagnosi pre-postnatale delle malattie metaboliche, Istituto Giannina Gaslini, Genova, Italy
PROPERTIES: enzymatic study; biochemical study; genetic study
Available in the following LABORATORY:
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Istituto Giannina Gaslini (GEIMM, Genova)
RPMI 1640 + 15-18% FBS + 1% Antibiotics + 2g/l NaHCO3 + 2mM L-Glutamine; Freezing medium: Culture medium + 25% FBS + 10% Glycerol; 37C, 5% CO2
Cell line belongs to risk category Group 1
Affected homozygous; Enzymatic diagnosis, Molecular diagnosis
Validated by: molecular analysis (N370S/?)
Bibliographic references:
- Am J Hum Genet 1990;46:527 - PMID: 6026933
For information, get in touch with:
Istituto Nazionale per la Ricerca sul Cancro,
c/o Centro Biotecnologie Avanzate, Torre B - Piano 2
Largo Rosanna Benzi, 10 - I-16132 Genova - Italy
Tel: +39-0105737-289, Fax: +39-0105737-293
Email: assunta.manniello@istge.it