Description:
GLYCOGEN STORAGE DISEASE 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 |
| Alternate IDs |
GM17089 [GLYCOGEN STORAGE DISEASE II] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
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|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
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Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
FILIPINO
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization - other
|
|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
| |
| alpha-glucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 1% activity. |
| |
| Remarks |
Deficient acid-alpha-1,4 glucosidase activity (1%) |
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