Description:
GLYCOGEN STORAGE DISEASE II
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Repository
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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 |
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Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
|
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Sample Source
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DNA from LCL
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Race
|
White
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Ethnicity
|
FILIPINO
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Relation to Proband
|
proband
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Confirmation
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Biochemical characterization - other
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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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| 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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