NA00007
DNA from Fibroblast
Description:
PHENYLKETONURIA
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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
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|
Family Member
|
3
|
|
Relation to Proband
|
mother
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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 |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
46,XX; normal level of dihydropteridine reductase in skin fibroblasts; clinically unaffected mother of GM00006 |
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