Characterization of a human iPSC derived Huntington’s disease cell line suitable for disease modelling and drug screening

Huntington’s disease (HD) is a genetically inherited autosomal dominant neurodegenerative disorder caused by a trinucleotide CAG (glutamine) repeat in the Huntingtin (HTT) gene. Symptoms are characterised by motor, cognitive and psychiatric deficits and no effective treatment exists for preventing onset or delaying progression.

Precision cell reprogramming technology, opti-ox, in combination with CRISPR-Cas9 gene editing has been used to develop iPSC-derived ioGlutamatergic Neurons carrying a 50 CAG repeat expansion in the HTT gene. Neurons from both WT and HTT 50 CAG/WT repeat showed neuronal morphology and expression of neuronal markers after a few days in culture. Moreover, functional characterisation using MEA platform showed electrophysiological differences between the WT and HTT CAG50/WT cell line.