Physiologically relevant media unmasks severe mitochondrial dysfunction in a precision reprogrammed iPSC-derived model of Huntington's disease

Using CRISPR/Cas9 editing, we successfully introduced a 50 CAG trinucleotide expansion in exon 1 of the HTT gene in an opti-ox enabled ioGlutamatergic Neurons cell line, creating a novel, genetically matched human iPSC-derived Huntington’s disease model. By culturing the HD model in a physiologically relevant medium that supported mitochondrial respiration, we unmasked a mitochondrial dysfunction phenotype.

ioGlutamatergic Neurons HTT 50CAG/WT represent a robust and scalable human iPSC-derived Huntingdon’s disease model with a physiologically relevant phenotype. Used with ioGlutamatergic Neurons, the genetically matched control, the HD model is suitable for translational research and drug discovery applications.