NA01153
DNA from Fibroblast
Description:
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
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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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3
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Relation to Proband
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father
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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 |
4 |
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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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| Remarks |
46,XY; normal RBC G6PD level, Xg(a) antigen positive; Sardinian; 0.53 units G6PD in fibroblasts; slow growing culture; negative for G6PD 563T(Ser188Phe), 844C(Asp282His), 202A(Val68Met), and 376G(Asn126Asp) mutations |
| Kennedy A, Frank RN, Varma SD, Galactitol accumulation by glucose-6-phosphate deficient fibroblasts: a cellular model for resistance to the complications of diabetes mellitus. Life Sci33:1277-83 1983 |
| PubMed ID: 6412013 |
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