GM20089
Fibroblast from Skin, Unspecified
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 |
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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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Fibroblast from Skin, Unspecified
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Race
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White
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Ethnicity
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DUTCH
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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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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 |
4.81 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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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 |
606800.0012; 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. |
| Remarks |
Clinically affected; presented at age 4 months with severe obstructive hypertrophic cardiomegaly, hypotonia, failure to thrive, and global developmental delay; deficiency of acid alpha-glucosidase activity in muscle; isolated left cleft lip with intact palate; died at age 8 months; donor subject is homozygous for an intragenic deletion of exon 18 [del ex18]; mother is GM20123; both parents confirmed heterozygotes for GAA gene deletion of exon 18. |
| Baik AD, Calafati P, Zhang X, Aaron NA, Mehra A, Moller-Tank S, Miloscio L, Praggastis M, Giovannone N, Pan C, Tang Y, Bridges S, Mujica A, Barbounis P, Yanolatos J, Gale N, Li N, Kyratsous CA, Schoenherr CJ, Murphy AJ, Economides AN, Cygnar KD, Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies Molecular therapy : the journal of the American Society of Gene Therapy29:3512-3524 2021 |
| PubMed ID: 34400331 |
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| Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R, Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop. Am J Med Genet85(1):5-8 1999 |
| PubMed ID: 10377006 |
| dbSNP |
dbSNP ID: 15737 |
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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