Description:
GYRATE ATROPHY OF CHOROID AND RETINA; GACR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Class |
Disorders of Amino Acid Metabolism |
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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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| Passage Frozen |
17 |
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| 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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| ornithine aminotransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.6.1.13; 6% activity. |
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| Remarks |
Pyridoxine responsive; approximately 6% of control fibroblast ornithine aminotransferase activity; not of Finnish extraction; marked myopia; abnormal electroretinography & electro-oculography; similarly affected sister |
| 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 |
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| 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 |
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| Weleber RG, Kennaway NG, Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. Ophthalmology88:316-24 1981 |
| PubMed ID: 6789268 |
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| 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 |
17 |
| Split Ratio |
1:2 |
| 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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