NA01126
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
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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
|
3
|
|
Relation to Proband
|
father
|
|
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 |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Two affected children; clinically unaffected father of GM01128 and 01129 |
| 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 |
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