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Journal / Genetics / Mitokondriyal Disfonksiyonu Incelemek İçin In…
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Genetics

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JoVE Journal Genetics
Mitokondriyal Disfonksiyonu Incelemek İçin In Vitro Bir Yaklaşım
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Mitokondriyal Disfonksiyonu Incelemek İçin In Vitro Bir Yaklaşım: Bir Cybrid Modeli

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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Transmitokondrial sibridler, mitokondriyal DNA (mtDNA) tükenmiş hücrelerin (rho0 hücreleri) mitokondriyal bozukluklardan etkilenen hastalardan türetilen sitoplastlarla (enüklee hücreler) kaynaştırılmasıyla elde edilen melez hücrelerdir. Hastalığın nükleer veya mitokondriyal kökeninin belirlenmesine, biyokimyasal aktivitenin değerlendirilmesine ve mtDNA ile ilişkili varyantların patogenetik rolünün doğrulanmasına izin verir.

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