NA00423
DNA from Fibroblast
Description:
HOMOCYSTINURIA
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Repository
|
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 |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Country of Origin
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USA
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
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Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
8 |
| |
| 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 |
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|