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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White
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Family Member
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1
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Relation to Proband
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proband
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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 |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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 |
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| Remarks |
See also GM00638A (SV40 Transformed) and GM02795A Lymphoid; G6PD type B; same patient as GM01907; deficient transferase and normal kinase activity in fibroblasts |
| Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ, GALT deficiency causes UDP-hexose deficit in human galactosemic cells Glycobiology13:285-94 2003 |
| PubMed ID: 12626383 |
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| Day RS 3d, Ziolkowski CH, Scudiero DA, Meyer SA, Lubiniecki AS, Girardi AJ, Galloway SM, Bynum GD, Defective repair of alkylated DNA by human tumour and SV40-transformed human cell strains. Nature288:724-7 1980 |
| PubMed ID: 6256643 |
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| Tedesco TA, Miller KL, Galactosemia: alterations in sulfate metabolism secondary to galactose- 1-phosphate uridyltransferase deficiency. Science205:1395-7 1979 |
| PubMed ID: 472754 |
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| Chen YT, Worthy TE, Krooth RS, Evidence for a striking increase in acetylcholinesterase activity in cultured human fibroblasts which are trisomic for chromosome two. Somatic Cell Genet4:265-98 1978 |
| PubMed ID: 694721 |
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| Greene AE, Manduka M, Coriell LL, SV40 virus transformation of genetic mutant cell cultures. Monogr Hum Genet9:248-52 1978 |
| PubMed ID: 215903 |
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| Croce CM, Assignment of the integration site for simian virus 40 to chromosome 17 in GM54VA, a human cell line transformed by simian virus 40. Proc Natl Acad Sci U S A74:315-8 1977 |
| PubMed ID: 189310 |
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| 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 |
| Passage Frozen |
10 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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