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 |
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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
|
3
|
|
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
|
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 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| 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 |
| Passage Frozen |
4 |
| 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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