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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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 |
6.2 |
| Passage Frozen |
6 |
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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; 0.27% 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 |
606800.0015; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ARG854TER; Becker et al. [Am. J. Hum. Genet. 62: 991-994 (1998)] found a high frequency of the arg854-to-ter mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (232300) in various African populations and in African-American patients. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0015; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ARG854TER; Becker et al. [Am. J. Hum. Genet. 62: 991-994 (1998)] found a high frequency of the arg854-to-ter mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (232300) in various African populations and in African-American patients. |
| Remarks |
Infantile onset; deficient acid-alpha-1,4 glucosidase (0.27%); no detectable levels of GAA mRNA or protein; passage 3 at CCR; donor subject is homozygous for a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 [Arg854Ter (R854X)]; cross-reactive immunological material (CRIM)-negative status confirmed by Western blot and GAA sequencing analyses (homozygous for p.Arg854X)(PMID:24044919). |
| Ullman JC, Dick RA, Linzner D, Minga T, Tep S, Satterfield TF, Xi Y, Beattie DT, Marmon T, Neutel JM, Chung B, Leeds JM, Noonberg SB, Green EM, Bernstein HS, First-in-Human Evaluation of Safety, Pharmacokinetics and Muscle Glycogen Lowering of a Novel Glycogen Synthase 1 Inhibitor for the Treatment of Pompe Disease Clinical pharmacology and therapeutics116:1580-1592 2024 |
| PubMed ID: 39439155 |
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| Cheng YS, Li R, Baskfield A, Beers J, Zou J, Liu C, Zheng W, A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying pR854X mutation in the GAA gene Stem cell research37:101435 2019 |
| PubMed ID: 31026687 |
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| Kang JY1, Shin KK1, Kim HH2, Min JK3,4, Ji ES5, Kim JY5, Kwon O6,7, Oh DB, Lysosomal Targeting Enhancement by Conjugation of Glycopeptides Containing Mannose-6-phosphate Glycans Derived from Glyco-engineered Yeast Scientific Reports8:8730 2018 |
| PubMed ID: 29880804 |
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| Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print]8:8730 2013 |
| PubMed ID: 24044919 |
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| Nishiyama Y, Shimada Y, Yokoi T, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T, Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease Molecular genetics and metabolism107:490-5 2012 |
| PubMed ID: 23041259 |
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| Moreland RJ, Higgins S, Zhou A, Vanstraten P, Cauthron RD, Brem M, McLarty BJ, Kudo M, Canfield WM, Species-specific differences in the processing of acid a-glucosidase are due to the amino acid identity at position 201 Gene491:25-30 2011 |
| PubMed ID: 21963446 |
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| Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, Cauthron RD, Brewer K, Edmunds T, Canfield WM, Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem280(8):6780-91 2005 |
| PubMed ID: 15520017 |
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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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| 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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| Beratis NG, LaBadie GU, Hirschhorn K, Genetic heterogeneity in acid alpha-glucosidase deficiency. Am J Hum Genet35:21-33 1983 |
| PubMed ID: 6401921 |
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| Hasilik A, Neufeld EF, Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem255:4946-50 1980 |
| PubMed ID: 6989822 |
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| Pena SD, Quilliam NM, Hamerton JL, Wrogemann K, Searching for molecular abnormalities in genetic diseases by the use of a double labeling technique. II. Deficiency of a basic protein in fibroblasts of patients with Pompe's disease. Pediatr Res12:894-8 1978 |
| PubMed ID: 362358 |
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| Pena SD, Wrogemann K, Searching for molecular abnormalities in genetic diseases by the use of a double labeling technique. I. Rationale, techniques, and initial evaluation. Pediatr Res12:887-93 1978 |
| PubMed ID: 714535 |
| dbSNP |
dbSNP ID: 10324 |
| 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 |
6 |
| Split Ratio |
1:3 |
| 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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