Description:
ASPARTYLGLUCOSAMINURIA
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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
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
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Biochemical characterization before cell line submission to CCR
|
|
Species
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Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.26 |
| |
| Remarks |
Consanguineous parents; mildly coarse facial features; general clumsiness; frequent nosebleeds; delayed cognitive skills; enlarged spleen; urinary oligosaccharidosis; deficient fibroblast Naspartyl-beta-glucosaminidase activity |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Heat Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
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