GM16530
Cytoplasmic transfer (cybrid)
Description:
ATP SYNTHASE 6; MTATP6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Engineered Cell Cultures |
| Class |
Disorders of the Mitochondrial Genome |
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Cell Type
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Cytoplasmic transfer (cybrid)
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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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| 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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| Remarks |
Cybrid cell line produced by the fusion of enucleated cells from a donor line from a patient with Leigh syndrome (GM13740) carrying a m8993T>G mutation in the ATP6 gene to a line devoid of mtDNA derived from the 143BTK- osteosarcoma cell line (ATCC CRL 8303). The cybrid line exhibited reduced state III respiration and reduced ADP/O ratio. This line will only be shipped frozen. |
| Chin RM, Panavas T, Brown JM, Johnson KK, Optimized Mitochondrial Targeting of Proteins Encoded by Modified mRNAs Rescues Cells Harboring Mutations in mtATP6 Cell reports22:2818-2826 2017 |
| PubMed ID: 29539412 |
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| Trounce I, Neill S, Wallace DC, Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci U S A91:8334-8 1994 |
| PubMed ID: 8078883 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Heat Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
Sodium Pyruvate 100 ug/ml |
| Supplement |
Uridine 50 ug/ml |
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