GM20092
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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PORTUGUESE/?
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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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| 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 |
C647W; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
CYS647TRP |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
1456_1468del13 |
| Remarks |
Clinically affected; presented with cardiomegaly and hypotonia prior to 5 months of age; muscle biopsy demonstrated intralysosomal glycogen accumulation; fibroblasts were acid alpha-glucosidase deficient; died prior to age 2 years; donor subject is a compound heterozygote: maternal allele has a C>G transversion at nucleotide 1941 in exon 14 of the GAA gene [1941C>G] resulting in a substitution of tryptophan for cysteine at codon 647 [Cys647Trp(C647W)] and the paternal allele has a de novo 13 nt deletion [del nt 1456-1468] resulting in a reading frameshift and a premature termination signal upstream of the enzyme catalytic site. Paternity was confirmed by comparison of multiple unlinked polymorphic markers. In addition two cis variants were identified in the GAA gene of the healthy father, which were also present in the patient: {[2065G>A] Glu689Lys (E689K)} and {[2238G>C] Trp746Cys (W746C)}. |
| Doman JL, Pandey S, Neugebauer ME, An M, Davis JR, Randolph PB, McElroy A, Gao XD, Raguram A, Richter MF, Everette KA, Banskota S, Tian K, Tao YA, Tolar J, Osborn MJ, Liu DR, Phage-assisted evolution and protein engineering yield compact, efficient prime editors Cell186:3983-4002.e26 2023 |
| PubMed ID: 37657419 |
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| Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R, A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). Hum Mol Genet3(7):1081-7 1994 |
| PubMed ID: 7981676 |
| dbSNP |
dbSNP ID: 14932 |
| 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 |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
10% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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