NA02523
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE III
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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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Black/African 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 |
3 |
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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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| amylo-alpha-1,6-glucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.33 |
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| Remarks |
Debrancher enzyme deficiency in muscle and low phosphorylase activity in liver; fibroblasts fail to form more glucose from the phosphorylase limit dextrin than from glycogen |
| Rossiaud L, Pellier E, Benabides M, Nissan X, Ronzitti G, Hoch L, Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III Stem cell research72:103214 2023 |
| PubMed ID: 37769385 |
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| Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005 |
| PubMed ID: 16251457 |
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| Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT, Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest98:352-7 1996 |
| PubMed ID: 8755644 |
| dbSNP |
dbSNP ID: 10528 |
| Gene Ontology |
GO:0004134 4-alpha-glucanotransferase activity |
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GO:0004135 amylo-alpha-1,6-glucosidase activity |
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GO:0005975 carbohydrate metabolism |
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GO:0005978 glycogen biosynthesis |
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GO:0016757 transferase activity, transferring glycosyl groups |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
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GO:0043033 isoamylase complex |
| NCBI Gene |
Gene ID:178 |
| NCBI GTR |
232400 GLYCOGEN STORAGE DISEASE III; GSD3 |
| OMIM |
232400 GLYCOGEN STORAGE DISEASE III; GSD3 |
| Omim Description |
AMYLO-1,6-GLUCOSIDASE DEFICIENCY; AGL DEFICIENCY |
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CORI DISEASE |
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FORBES DISEASE |
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GLYCOGEN DEBRANCHER DEFICIENCY; GDE DEFICIENCY |
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GLYCOGEN DEBRANCHER ENZYME, INCLUDED; GDE, INCLUDED |
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GLYCOGEN DEBRANCHING DEFICIENCYAMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE, INCLUDED; AGL,INCLUDED |
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GLYCOGEN STORAGE DISEASE III |
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LIMIT DEXTRINOSIS |
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