Description:
GLYCOGEN STORAGE DISEASE II
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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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Biochemical characterization - other
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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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| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
R660H; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ARG660HIS |
| |
| 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 |
Clinically affected; classic infantile type; marked cardiomegaly; cardiomyopathy; cardiac failure; muscle weakness; respiratory insufficiency; muscle biopsy showed acid maltase deficiency; expired at age 6 mo; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1979 of the GAA gene (c.1979G>A) resulting in the substitution of histidine for arginine at codon 660 [Arg660His (R660H)]; the second allele has a C>T transition at nucleotide 2560 in exon 18 (c.2560C>T) resulting in a stop at codon 854 [Arg854Ter (R854X)] |
| 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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| 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 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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