NA01374
DNA from Fibroblast
Description:
HOMOCYSTINURIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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|
Sample Source
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DNA from Fibroblast
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Race
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White
|
|
Family Member
|
1
|
|
Relation to Proband
|
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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|
| Passage Frozen |
4 |
| |
| cystathionine gamma-synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.48 |
| |
| Remarks |
Deficient cystathionine synthetase activity |
| Jakubowski H, Metabolism of homocysteine thiolactone in human cell cultures. Possible mechanism for pathological consequences of elevated homocysteine levels. J Biol Chem272:1935-42 1997 |
| PubMed ID: 8999883 |
| |
| Kruger WD, Cox DR, A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. Hum Mol Genet4:1155-61 1995 |
| PubMed ID: 8528202 |
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