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JoVE Journal Genetics
Un approccio in vitro per studiare la disfunzione mitocondriale
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Un approccio in vitro per studiare la disfunzione mitocondriale: un modello di cibridi

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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I cibridi transmitocondriali sono cellule ibride ottenute fondendo cellule impoverite di DNA mitocondriale (mtDNA) (cellule rho0 ) con citoplasti (cellule enucleate) derivati da pazienti affetti da disturbi mitocondriali. Consentono la determinazione dell'origine nucleare o mitocondriale della malattia, la valutazione dell'attività biochimica e la conferma del ruolo patogenetico delle varianti correlate al mtDNA.

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Genetica Numero 181
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