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Study of the pathogenesis of human COQ genes variants in cellular models. Variants identified in COQ genes by NGS can be analyzed by functional complementation in yeast, physiologically characterized and validated in the context of skin patient’s-derived fibroblasts, and fibroblasts-derived iPSC to study the implication of defective genes in pluripotent cells physiology and the effect of the variant in tissue-specific differentiated cells.
