NA01151
DNA from Fibroblast
Description:
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
| 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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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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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY
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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 |
3 |
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| glucose-6-phosphate 1-dehydrogenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.1.1.49 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Gene |
G6PD |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
305900.0006; G6PD MEDITERRANEAN |
| Identified Mutation |
SER188PHE; A change from cytosine to thymine at base position 563 in exon 6 causes a change from serine to phenylalanine in amino acid position 188. This mutation is also referred to as the G6PD Mediterranean-563T mutation. |
| Remarks |
46,XY; RBC deficient for G6PD(med type), Xg(a) antigen absent; Sardinian; G6PD mutation is 563C>T (Ser188Phe{S188F}) |
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