Description:
GLYCOGEN STORAGE DISEASE VII
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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 |
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
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White
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Ethnicity
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JEWISH
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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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| 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 |
Tarui's disease; muscle, fibroblasts and lymphoblasts deficient in phosphofructokinase M subunits; muscle weakness and myoglobinuria on exertion; mild erythrocytosis; decreased production of 2,3 diphosphoglycerate |
| Vora S, Isozymes of human phosphofructokinase in blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system. Blood57:724-32 1981 |
| PubMed ID: 6451249 |
| |
| Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S, The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. Blood55:629-35 1980 |
| PubMed ID: 6444532 |
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