GM12015
LCL from B-Lymphocyte
Description:
MEVALONIC ACIDURIA; MEVA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| mevalonate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.1.36; 2% activity. |
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| Remarks |
Psychomotor retardation; failure to thrive; cataract; dysmorphia; hypotonia; hepatosplenomegaly; 2% of control mevalonate kinase activity; see GM12014 Fibro |
| Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L, Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med314:1610-4 1986 |
| PubMed ID: 3012338 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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