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

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

DOI:
10.3791/63452-v

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06:05 min

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March 09, 2022

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, , ,
1Unit of Medical Genetics and Neurogenetics,Fondazione IRCCS Istituto Neurologico Carlo Besta

Capitoli

  • 00:04Introduction
  • 00:51Enucleation of Fibroblasts
  • 02:58Fusion of the Enucleated Fibroblasts with Rho0 Cells
  • 03:54Cybrid Selection and Expansion
  • 04:37Results: Generation of Cybrids
  • 05:36Conclusion

Summary

Traduzione automatica

Traduzione automatica

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.

Tags

Keywords: Mitochondrial DysfunctionCybrid ModelIn Vitro ApproachMitochondrial DNA MutationBiochemical InvestigationNuclear BackgroundPathogenicityCytoplast Formation143 Row Zero CellsPolyethylene Glycol Solution

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