Description:
KEARNS-SAYRE SYNDROME; KSS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Mitochondrial Genome |
| Class |
Ophthalmologic Disorders |
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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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Ethnicity
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JEWISH
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Family Member
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1
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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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| PDL at Freeze |
4.47 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
external ophthalmoplegia with retinal degeneration, ptosis, myocardial fibrosis with congestive heart failure, muscle weakness, diabetes, and absence of sweat; parents have normal ERGs and EKGs; see GM06224A Lymph |
| Patananan AN, Sercel AJ, Wu TH, Ahsan FM, Torres A, Kennedy SAL, Vandiver A, Collier AJ, Mehrabi A, Van Lew J, Zakin L, Rodriguez N, Sixto M, Tadros W, Lazar A, Sieling PA, Nguyen TL, Dawson ER, Braas D, Golovato J, Cisneros L, Vaske C, Plath K, Rabizadeh S, Niazi KR, Chiou PY, Teitell MA, Pressure-Driven Mitochondrial Transfer Pipeline Generates Mammalian Cells of Desired Genetic Combinations and Fates Cell reports33:108562 2020 |
| PubMed ID: 33378680 |
| |
| Johnson SC, Martinez F, Bitto A, Gonzalez B, Tazaerslan C, Cohen C, Delaval L, Timsit J, Knebelmann B, Terzi F, Mahal T, Zhu Y, Morgan PG, Sedensky MM, Kaeberlein M, Legendre C, Suh Y, Canaud G, mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases Kidney international33:108562 2018 |
| PubMed ID: 30471880 |
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| Prithivirajsingh S, Story MD, Bergh SA, Geara FB, Ang KK, Ismail SM, Stevens CW, Buchholz TA, Brock WA, Accumulation of the common mitochondrial DNA deletion induced by ionizing radiation. FEBS Lett571(1-3):227-32 2004 |
| PubMed ID: 15280047 |
| dbSNP |
dbSNP ID: 14761 |
| 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 |
| Passage Frozen |
5 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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