NA00575
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED)
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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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White
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Ethnicity
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MEXICAN-AMERICAN
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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 |
5 |
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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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| phosphorylase kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.11.19; <10% activity. |
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| Remarks |
Mexican-American; less than 10% of normal phosphorylase b kinase activity; type IX |
| dbSNP |
dbSNP ID: 10350 |
| Gene Ontology |
GO:0004689 phosphorylase kinase activity |
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GO:0005516 calmodulin binding |
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GO:0005964 phosphorylase kinase complex |
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GO:0005975 carbohydrate metabolism |
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GO:0005977 glycogen metabolism |
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GO:0006091 energy pathways |
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GO:0006464 protein modification |
| NCBI Gene |
Gene ID:5256 |
| NCBI GTR |
306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 |
| OMIM |
306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 |
| Omim Description |
GLYCOGEN STORAGE DISEASE IX, INCLUDED |
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GLYCOGEN STORAGE DISEASE VIII |
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GLYCOGENOSIS VIIIA |
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HEPATIC PHOSPHORYLASE KINASE DEFICIENCY; PHK |
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LIVER GLYCOGENOSIS, X-LINKED, TYPE I |
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LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED |
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PHKA, INCLUDED |
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PHOSPHORYLASE KINASE DEFICIENCY OF LIVER; PYK; PYKL |
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X-LINKED LIVER GLYCOGENOSIS; XLGPHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT, INCLUDED; PHKA2, INCLUDED |
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