NA00298
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE II
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate 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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Relation to Proband
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proband
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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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| PDL at Freeze |
5.04 |
| Passage Frozen |
6 |
| |
| Remarks |
Clinically affected; excessive mucopolysaccharide accumulation which is correctable by Hunter factor; similarly affected brother not in the repository.
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| Chen CS, Bach G, Pagano RE, Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc Natl Acad Sci U S A95:6373-8 1998 |
| PubMed ID: 9600972 |
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