NA20124
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA
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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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
6.34 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| alpha-glucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 0% activity. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
606800.0012; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
EX18DEL; Van der Kraan et al. [Biochem. Biophys. Res. Commun. 203: 1535-1541 (1994)] reported that deletion of exon 18 of the GAA gene is a frequent mutation in Pompe disease (232300). Huie et al. [Hum. Molec. Genet. 3: 2231-2236 (1994)] found this mutation in patients with both infantile and adult forms of this disease. Vorgerd et al. [Neurogenetics 1: 205-211 (1998)] found homozygosity for the exon 18 deletion in 2 affected sibs and an unrelated patient with adult type GSD II. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0014; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
1-BP DEL, 525T; In a girl with the juvenile form of Pompe disease (232300), Hermans et al. (1994) identified compound heterozygosity for 2 mutations in the GAA gene: P545L (606800.0013) and a 1-bp deletion (525delT), resulting in premature termination of the protein at nucleotide positions 658 to 660. |
| Remarks |
Clinically affected; classic infantile onset with cardiomegaly; hypertrophic cardiomyopathy; classic EKG findings; macroglossia; hypotonia; glycogen storage in lysosomes; alpha glucosidase activity = 0.0 ug/mg prot/hr (normal = 137.1 to 1025.9); donor subject is a compound heterozygote: one allele has an intragenic deletion of exon 18 [del ex18] and a second allele has a single nucleotide deletion (threonine) at position 525 in exon 2 of the GAA gene [del525T]. |
| Gene Cards |
GAA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
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GO:0004558 alpha-glucosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0005980 glycogen catabolism |
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GO:0006091 energy pathways |
| NCBI Gene |
Gene ID:2548 |
| NCBI GTR |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| OMIM |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| Omim Description |
ACID MALTASE DEFICIENCY; AMD |
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ALPHA-1,4-GLUCOSIDASE DEFICIENCYGLUCOSIDASE, ALPHA, ACID, INCLUDED; GAA, INCLUDED |
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CARDIAC FORM OF GENERALIZED GLYCOGENOSIS |
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CARDIOMEGALIA GLYCOGENICA DIFFUSA |
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GLUCOSIDASE, ACID, ALPHA DEFICIENCY; GAA DEFICIENCY |
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GLYCOGEN STORAGE DISEASE II |
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POMPE DISEASE |
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