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Identification of disease-causing mutations by functional complementation of patient-derived fibroblast cell lines.
Methods Mol. Biol. 1567, 391-406 (2017)
Diagnosis of mitochondrial disorders is still hampered by their phenotypic and genotypic heterogeneity. In many cases, exome sequencing, the state-of-the-art method for genetically diagnosing mitochondrial disease patients, does not allow direct identification of the disease-associated gene but rather results in a list of variants in candidate genes. Here, we present a method to validate the disease-causing variant based on functional complementation assays. First, cell lines expressing a wild-type cDNA of the candidate genes are generated by lentiviral infection of patient-derived fibroblasts. Next, oxidative phosphorylation is measured by the Seahorse XF analyzer to assess rescue efficiency.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Disease-associated Gene ; Exome Sequencing ; Functional Complementation ; Mitochondrial Disorders ; Oxygen Consumption Rate
Institute(s) Institute of Human Genetics (IHG)