Description:
LEIGH SYNDROME; LS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate 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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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 |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Infantile subacute; subnormal activation of pyruvate dehydrogenase complex in disrupted fibroblasts |
| Son D, Zheng J, Kim IY, Kang PJ, Park K, Priscilla L, Hong W, Yoon BS, Park G, Yoo JE, Song G, Lee JB, You S, Human induced neural stem cells support functional recovery in spinal cord injury models Experimental & molecular medicine: 2022 |
| PubMed ID: 37258581 |
| |
| Romero-Morales AI, Robertson GL, Rastogi A, Rasmussen ML, Temuri H, McElroy GS, Chakrabarty RP, Hsu L, Almonacid PM, Millis BA, Chandel NS, Cartailler JP, Gama V, Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis Development (Cambridge, England)149: 2021 |
| PubMed ID: 35792828 |
| |
| Maeda R, Kami D, Maeda H, Shikuma A, Gojo S, High throughput single cell analysis of mitochondrial heteroplasmy in mitochondrial diseases Scientific reports10:10821 2019 |
| PubMed ID: 32616755 |
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| 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 international10:10821 2018 |
| PubMed ID: 30471880 |
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| Vo TD1, Paul Lee WN, Palsson BO., Systems analysis of energy metabolism elucidates the affected respiratory chain complex in Leigh's syndrome Molecular Genetics and Metabolism91:15-22 2007 |
| PubMed ID: 17336115 |
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| Huh TL, Casazza JP, Huh JW, Chi YT, Song BJ, Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. J Biol Chem265:13320-6 1990 |
| PubMed ID: 2376596 |
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| Sorbi S, Blass JP, Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology32:555-8 1982 |
| PubMed ID: 7200213 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| 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 |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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