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 |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
11 |
| |
| 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; 8% activity. |
| |
| Remarks |
Pyridoxine responsive; approx 8% of control fibroblast ornithine aminotransferase act; not of Finnish extraction; neg family hist; constricted visual fields; abnormal electroretinography & electrooculography; mild myopia |
| 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 |
| |
| Wirtz MK, Kennaway NG, Weleber RG, Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina. J Inherit Metab Dis8:71-4 1985 |
| PubMed ID: 3939534 |
| |
| Weleber RG, Wirtz MK, Kennaway NG, Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6. Birth Defects Orig Artic Ser18:219-30 1982 |
| PubMed ID: 7171757 |
| |
| Weleber RG, Kennaway NG, Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. Ophthalmology88:316-24 1981 |
| PubMed ID: 6789268 |
| |
| Kennaway NG, Weleber RG, Buist NR, Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. Am J Hum Genet32:529-41 1980 |
| PubMed ID: 7395865 |
| Passage Frozen |
11 |
| 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 |
- |
|
|