Description:
GLYCOGEN STORAGE DISEASE IB
Repository
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No Data
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Subcollection |
Heritable Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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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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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 |
Passage Frozen |
9 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
10% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
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