Description:
KEARNS-SAYRE SYNDROME; KSS
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Repository
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No Data
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| Subcollection |
Heritable Diseases |
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License Required
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No Data
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| Class |
Disorders of the Mitochondrial Genome |
| Class |
Ophthalmologic Disorders |
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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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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| Cherry AB, Gagne KE, McLoughlin EM, Baccei A, Gorman B, Hartung O, Miller JD, Zhang J, Zon RL, Ince TA, Neufeld EJ, Lerou PH, Fleming MD, Daley GQ, Agarwal S, Induced pluripotent stem cells with a mitochondrial DNA deletion Stem cells (Dayton, Ohio)31:1287-97 2012 |
| PubMed ID: 23400930 |
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| Singh G, Lott MT, Wallace DC, A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med320:1300-5 1989 |
| PubMed ID: 2566116 |
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| Singh G, Neckelmann N, Wallace DC, Conformational mutations in human mitochondrial DNA. Nature329:270-2 1987 |
| PubMed ID: 2888022 |
| dbSNP |
dbSNP ID: 18087 |
| NCBI Gene |
Gene ID:3894 |
| NCBI GTR |
530000 KEARNS-SAYRE SYNDROME; KSS |
| OMIM |
530000 KEARNS-SAYRE SYNDROME; KSS |
| Omim Description |
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY |
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CPEO WITH MYOPATHY |
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CPEO WITH RAGGED-RED FIBERS |
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KEARNS-SAYRE SYNDROME; KSS |
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MITOCHONDRIAL CYTOPATHY |
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OCULOCRANIOSOMATIC SYNDROME |
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OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY |
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OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS |
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OPHTHALMOPLEGIA-PLUS SYNDROME |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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