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