Description:
MUCOPOLYSACCHARIDOSIS TYPE II
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
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White
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|
Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY
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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 |
4 |
| |
| iduronate-2-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.13 |
| |
| Remarks |
Clinically affected; 46,XY; accumulates mucopolysaccharide which is correctable by Hunter factor; deficient iduronate sulfatase activity.
|
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
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