NA06336
DNA from Fibroblast
Description:
GYRATE ATROPHY OF CHOROID AND RETINA; GACR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
ITALIAN
|
|
Family Member
|
2
|
|
Relation to Proband
|
sister
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| ornithine aminotransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.6.1.13; <5% activity. |
| |
| Remarks |
Progress blindness since 12; flat ERG; spinocerebel ataxia; atrophy of leg & ft mus; abnor musc bx; elevated serum ornithine level; sim aff sib; parents 2nd cous; < 5% normal ornithine aminotransferase act; unrespon in vitro to Vit B6 |
| Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM, GACR Bird's Eye View Consortium MM, Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S, Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay Molecular genetics and metabolism143:108542 2024 |
| PubMed ID: 39053126 |
|
|