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Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA·TTC Triplet Repeat Instability

The inherited neurodegenerative disease Friedreich's ataxia (FRDA) is caused by GAA⋅TTC triplet repeat hyperexpansions within the first intron of the FXN gene, encoding the mitochondrial protein frataxin. Long GAA⋅TTC repeats cause heterochromatin-mediated gene silencing and loss of frataxin in affected individuals. We report the derivation of induced pluripotent stem cells (iPSCs) from FRDA patient fibroblasts by transcription factor reprogramming.

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA·TTC Triplet Repeat Instability


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Jen Farmer

Jen Farmer

Executive Director

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