Description:
PYROGLUTAMICACIDURIA
|
Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
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Clinical summary/Case history
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|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
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|
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| glutathione synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.3.2.3 |
| |
| Remark |
Metabolic acidosis; hemolytic anemia; fibroblasts deficient in glutathione synthetase activity |
| Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW, Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet14(3):361-5 1996 |
| PubMed ID: 8896573 |
| |
| Poot M, Verkerk A, Koster JF, Jongkind JF, De novo synthesis of glutathione in human fibroblasts during in vitro ageing and in some metabolic diseases as measured by a flow cytometric method. Biochim Biophys Acta883:580-4 1986 |
| PubMed ID: 3756223 |
| |
| Parshad R, Gantt R, Sanford KK, Jones GM, Chromosomal radiosensitivity of human tumor cells during the G2 cell cycle period. Cancer Res44:5577-82 1984 |
| PubMed ID: 6498819 |
| |
| Wellner VP, Anderson ME, Puri RN, Jensen GL, Meister A, Radioprotection by glutathione ester: transport of glutathione ester into human lymphoid cells and fibroblasts. Proc Natl Acad Sci U S A81:4732-5 1984 |
| PubMed ID: 6146978 |
| |
| Spielberg SP, Kramer LI, Goodman SI, Butler J, Tietze F, Quinn P, Schulman JD, 5-oxoprolinuria: biochemical observations and case report. J Pediatr91:237-41 1977 |
| PubMed ID: 874680 |
| Passage Frozen |
11 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
|
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