GM20090
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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CELTIC
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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 |
4.74 |
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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 |
D645N; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ASP645ASN |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
2243insG |
| Remarks |
Clinically affected; enzyme activity in fibroblasts was <0.1% of normal; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1933 in exon 14 of the GAA gene [1933G>A] resulting in a substitution of asparagine for aspartic acid at codon 645 [Asp645Asn(D645N)] and a second allele has an insertion of a guanosine residue at nucleotide 2243 in exon 16 of the GAA gene [2243insG]. |
| 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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| 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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| 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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| Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R, Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Biochem Biophys Res Commun244(3):921-7 1998 |
| PubMed ID: 9535769 |
| dbSNP |
dbSNP ID: 19201 |
| 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 |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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