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Case Study: Modeling Friedreich’s ataxia using patient-derived iPSCs

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By Georgios Kosmidis, PhD

Modeling Friedreich’s ataxia using patient-derived human iPSC-derived cardiomyocytes

The reprogramming of patient-derived fibroblasts into human induced pluripotent stem cells (iPSCs) and the successful differentiation of these cells into cardiomyocytes has opened the possibility to model Friedreich's Ataxia (FRDA) in a platform that has a closer fidelity to human pathophysiology and is able to recapitulate at the cellular level more aspects of the disease phenotype than murine or other animal models.

Ncardia, with over 10 years of experience in the field of iPSC-based services of cell manufacturing, disease modeling and assay development, has been able to successfully manufacture cardiomyocytes from FRDA patient-derived iPSCs.

This case study describes how we created an FDRA disease model, recapitulating many aspects of the FRDA cardiac phenotype and reversing the functional abnormalities observed at the cellular level with the use of an AAV gene delivery system.

Download the case study and discover the benefits:

  • Patient-derived to closely mimic human pathophysiology,

  • Displaying the key hallmarks of FRDA cardiac phenotype,

  • Highly suitable to assess AAV transduction.

Modeling Friedreich's Ataxia using patient-derived iPSCs

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