Description:
GALACTOSEMIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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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Family Member
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2
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Relation to Proband
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brother
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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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|
| Passage Frozen |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| UDP-glucose--hexose-1-phosphate uridylyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.7.12; 0% activity. |
| |
| Remarks |
G6PD Type A; ATCC CCL 132; no detectable transferase activity in RBCs or fibroblasts; negative for Q188R, R333W, and N314D GALT gene mutations |
| Tedesco TA, Miller KL, Galactosemia: alterations in sulfate metabolism secondary to galactose- 1-phosphate uridyltransferase deficiency. Science205:1395-7 1979 |
| PubMed ID: 472754 |
| |
| Friedman TB, Yarkin RJ, Merril CR, Galactose and glucose metabolism in galactokinase deficient, galactose- 1-P-uridyl transferase deficient and normal human fibroblasts. J Cell Physiol85:569-78 1975 |
| PubMed ID: 167035 |
| |
| Mellman WJ, Tedesco TA, Greene AE, Coriell LL, Galactosemia. Repository identification Nos. GM-52 and GM-53. Cytogenet Cell Genet15:198-9 1975 |
| PubMed ID: 1192846 |
| |
| Baker, Galactosemia: Symptomatic and asymptomatic homozygotes in one negro sibship. J Pediatr68:551 (1966):198-9 1966 |
| PubMed ID: 1192846 |
| Passage Frozen |
12 |
| 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 with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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