NA00625
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 |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
parent
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
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Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Confirmed heterozygote; 2 affected children |
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