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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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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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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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| PDL at Freeze |
5.11 |
| Passage Frozen |
4 |
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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; 0.21% activity. |
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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 |
; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
1441delT |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
W746X; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
TRP746TER |
| Remarks |
Biventricular hypertrophy, enlarged tongue, areflexia, decreased muscle tone, slightly enlarged liver, respiratory difficulties, fever, and cyanosis; expired at age 6 months; negative family history; no detectable mRNA for GAA; no GAA protein detected by antibody; deficient acid-alpha-1,4 glucosidase activity (0.21%); normal debrancher enzyme activity; donor subject is a compound heterozygote: allele one has a deletion of a T at nucleotide 1441 (1441delT) in exon 10 of the GAA gene resulting in a frameshift and premature termination 39 amino acids downstream from the mutation site; allele two carries a G>A transition at nucleotide 2237 in exon 16 (2237G>A) which results in the conversion of a tryptophan at amino acid 746 to a nonsense codon [Trp746Ter (W746X)] |
| Carlson-Stevermer J, Das A, Abdeen AA, Fiflis D, Grindel BI, Saxena S, Akcan T, Alam T, Kletzien H, Kohlenberg L, Goedland M, Dombroe MJ, Saha K, Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases Nature communications11:6277 2020 |
| PubMed ID: 33293555 |
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| Han SO, Haynes AC, Li S, Abraham DM, Kishnani PS, Steet R, Koeberl DD, Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease Molecular genetics and metabolism11:6277 2019 |
| PubMed ID: 31645300 |
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| Jiwlawat N, Lynch EM, Napiwocki BN, Stempien A, Ashton RS, Kamp TJ, Crone WC, Suzuki M, Micropatterned substrates with physiological stiffness promote cell maturation and Pompe disease phenotype in human induced pluripotent stem cell-derived skeletal myocytes Biotechnology and bioengineering116:2377-2392 2018 |
| PubMed ID: 31131875 |
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| Pauly DF, Fraites TJ, Toma C, Bayes HS, Huie ML, Hirschhorn R, Plotz PH, Raben N, Kessler PD, Byrne BJ, Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease. Hum Gene Ther12(5):527-38 2001 |
| PubMed ID: 11268285 |
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| Raben N, Lee E, Lee L, Hirschhorn R, Plotz PH, Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online. Hum Mutat13(1):83-4 1999 |
| PubMed ID: 10189220 |
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| Becker JA, Vlach J, Raben N, Nagaraju K, Adams EM, Hermans MM, Reuser AJ, Brooks SS, Tifft CJ, Hirschhorn R, Huie ML, Nicolino M, Plotz PH, The African origin of the common mutation in African American patients with glycogen-storage disease type II. Am J Hum Genet62(4):991-4 1998 |
| PubMed ID: 9529346 |
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| Pauly DF, Johns DC, Matelis LA, Lawrence JH, Byrne BJ, Kessler PD, Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle. Gene Ther5(4):473-80 1998 |
| PubMed ID: 9614571 |
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| Zhong N, Martiniuk F, Tzall S, Hirschhorn R, Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. Am J Hum Genet49:635-45 1991 |
| PubMed ID: 1652892 |
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| Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R, Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA. Am J Hum Genet47:73-8 1990 |
| PubMed ID: 2112341 |
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| Martiniuk F, Mehler M, Pellicer A, Tzall S, La Badie G, Hobart C, Ellenbogen A, Hirschhorn R, Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc Natl Acad Sci U S A83(24):9641-4 1986 |
| PubMed ID: 3540946 |
| dbSNP |
dbSNP ID: 16758 |
| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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