NA03719
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE IB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Other
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Ethnicity
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PANAMA INDIAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Remarks |
Type Ib; Panamanian Ind; severe hypoglycemia, lactic acidosis, and neutropenia; liver biopsy shows G6P transport defect |
| Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY, Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J Clin Invest95:234-40 1995 |
| PubMed ID: 7814621 |
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| Beaudet AL, Anderson DC, Michels VV, Arion WJ, Lange AJ, Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. J Pediatr97:906-10 1980 |
| PubMed ID: 6255119 |
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| Lange AJ, Arion WJ, Beaudet AL, Type Ib glycogen storage disease is caused by a defect in the glucose-6- phosphate translocase of the microsomal glucose-6-phosphatase system. J Biol Chem255:8381-4 1980 |
| PubMed ID: 6251055 |
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