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JoVE Journal Genetics
Un enfoque in vitro para estudiar la disfunción mitocondrial
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Un enfoque in vitro para estudiar la disfunción mitocondrial: un modelo cibrido

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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Los cibridos transmitocondiales son células híbridas obtenidas mediante la fusión de células agotadas de ADN mitocondrial (ADNmt) (células rho0 ) con citólogos (células enucleadas) derivadas de pacientes afectados por trastornos mitocondriales. Permiten la determinación del origen nuclear o mitocondrial de la enfermedad, la evaluación de la actividad bioquímica y la confirmación del papel patogénico de las variantes relacionadas con el ADNmt.

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Genética Número 181
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