NA12131
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE IV
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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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Biopsy Source
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Liver
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Cell Type
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Fibroblast
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Tissue Type
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Liver
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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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White
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Family Member
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1
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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 |
3 |
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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 |
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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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| 1,4-alpha-glucan branching enzyme |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.1.18 |
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| Remarks |
Liver biopsy fibroblast culture; hepatic insufficiency & portal hypertension with hepatomegaly; parents are GM12136 & 12137 Lymphoid; liver transplant for cirrhosis; diagnosis confirmed by deficiency of brancher enzyme |
| Penchansky L, Agostini RM, Jaffe R, Leukocyte inclusions in glycogen storage disease, type IV [letter] Pediatr Pathol12:903-5 1992 |
| PubMed ID: 1333075 |
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