NA06940
DNA from Fibroblast
Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
| Alternate IDs |
GM17301 [CHOROIDEREMIA; CHM] |
| Quantity |
0.050mg |
| 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
|
White
|
|
Ethnicity
|
ECUADORIAN
|
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Relation to Proband
|
proband
|
|
Confirmation
|
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
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Slowly progressive loss of vision with nightblindness; negative family history; striking atrophy of the pigment epithelium |
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