NA01212
DNA from Fibroblast
Description:
GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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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 |
| Alternate IDs |
GM17351 [GALACTOSEMIA] |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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DOMINICAN REPUBLICAN
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Family Member
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4
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Relation to Proband
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mother
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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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; 50% activity. |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
D98H; GALACTOSEMIA |
| Identified Mutation |
ASP98HIS |
| Remarks |
50% of normal transferase activity; 2 affected children (twins); clinically unaffected mother of GM01209, 01210, and 01211; donor subject is heterozygous for a G>C transition at nucleotide 292 of the GALT gene (c.292G>C) resulting in the substitution of histidine for aspartic acid at codon 98 [Asp98His (D98H)] |
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