Description:
GLYCOGEN STORAGE DISEASE II
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage 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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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| alpha-glucosidase |
According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 4% activity. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
W516X; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
TRP516TER |
| |
| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
N520S; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ASN520SER |
| Remarks |
Clinically affected; deficient acid-alpha-1,4 glucosidase activity (4%); donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1548 in exon 10 of the GAA gene (c.1548G>A) resulting in a stop at codon 516 [Trp516Ter (W516X)]; the second allele has an A>G transition at nucleotide 1559 in exon 11 (c.1559A>G) resulting in the substitution of serine for asparagine at codon 520 [Asn520Ser (N520S)] |
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