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JoVE Journal Genetics
En in vitro-tilgang til undersøgelse af mitokondriel dysfunktion
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En in vitro-tilgang til undersøgelse af mitokondriel dysfunktion: En cybridmodel

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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Transmitokondrielle cybrider er hybridceller opnået ved at fusionere mitokondrie-DNA (mtDNA)-udtømte celler (rho0-celler ) med cytoplaster (enukleerede celler) afledt af patienter, der er ramt af mitokondrieforstyrrelser. De tillader bestemmelse af sygdommens nukleare eller mitokondrielle oprindelse, evaluering af biokemisk aktivitet og bekræftelse af den patogenetiske rolle af mtDNA-relaterede varianter.

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Genetik udgave 181
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