Description:
MUCOPOLYSACCHARIDOSIS TYPE VII
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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
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
sister
|
|
Confirmation
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Clinical summary/Case history
|
|
Species
|
Homo sapiens
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|
Common Name
|
Human
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|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| beta-glucuronidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.31; 0% activity. |
| |
| Remarks |
No detectable beta-glucuronidase activity in fibroblasts |
| Cadaoas J, Boyle G, Jungles S, Cullen S, Vellard M, Grubb JH, Jurecka A, Sly W, Kakkis E, Vestronidase alfa: Recombinant human ß-glucuronidase as an enzyme replacement therapy for MPS VII Molecular genetics and metabolism: 2019 |
| PubMed ID: 32192868 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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