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
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2
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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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| PDL at Freeze |
6.19 |
| Passage Frozen |
12 |
| |
| 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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| 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,XX; heterozygote; G6PD(med)/G6PD(B), Xg(a) antigen present; G6PD genotype is 563C>T (Ser188Phe{S188F})/+ |
| Xu, W., Westwood, B., Bartsocas, C.S., Malcorra-Azpiazu, J.J., Indrak, K., and Beutler, E., Glucose-6 Phosphate Dehydrogenase Mutations and Haplotypes in Various Ethnic Groups Blood85(1):257-263 1995 |
| PubMed ID: 7803800 |
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| Rinaldi A, Velivasakis M, Latte B, Filippi G, Siniscalco M, Triplo-X constitution of mother explains apparent occurrence of two recombinants in sibship segregating at two closely X-linked loci (G6PD and deutan). Am J Hum Genet30:339-45 1978 |
| PubMed ID: 309723 |
| Cumulative PDL at Freeze |
15.6 |
| Passage Frozen |
12 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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