NA01584
DNA from Amniotic fluid-derived cell line
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Amniotic fluid
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Cell Type
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Amniotic fluid-derived cell line
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Transformant
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Untransformed
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Sample Source
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DNA from Amniotic fluid-derived cell line
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Race
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White
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Family Member
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2
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Relation to Proband
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brother
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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 |
6 |
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| iduronate-2-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.13 |
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| Remarks |
46,XY; deficient iduronate sulfatase; Israeli; affected brother is GM01583 Fibroblast |
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