Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
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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
|
|
Transformant
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Untransformed
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|
Race
|
White
|
|
Family Member
|
2
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|
Relation to Proband
|
mother
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|
Confirmation
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Clinical summary/Case history
|
|
Species
|
Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| Passage Frozen |
17 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| N-acetylgalactosamine-4-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12; 63% activity. |
| |
| Remarks |
Two affected children; normal fibroblast arylsulfatase A activity; 63% of normal arylsulfatase B activity |
| Passage Frozen |
17 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's MEM with Hank's BSS, with 26mM Hepes; ambient CO2 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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