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JoVE Journal Genetics
An In Vitro Approach to Study Mitochondrial Dysfunction
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An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Article DOI: 10.3791/63452-v • 06:05 min • March 9th, 2022
March 9th, 2022 •
*1, *1, 1, 1
1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta
* These authors contributed equally

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Summary
Automatic Translation

Transmitochondrial cybrids are hybrid cells obtained by fusing mitochondrial DNA (mtDNA)-depleted cells (rho0 cells) with cytoplasts (enucleated cells) derived from patients affected by mitochondrial disorders. They allow the determination of the nuclear or mitochondrial origin of the disease, evaluation of biochemical activity, and confirmation of the pathogenetic role of mtDNA-related variants.

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