Abstract
Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder which has no cure. It is characterized by a profound loss of striatal neurons in the basal ganglia which drives a range of progressive motor, cognitive and psychiatric symptoms. Advanced in vitro HD models are a key tool for research and drug discovery, and central to these models is the production of functional striatal neurons1.
At Axol Bioscience, we have reprogrammed a human induced pluripotent stem cell (iPSC) line from an HD patient with > 120 CAG repeats. After reprogramming and generation of the master bank, the number of CAG repeats was 144 and CAG expansion analysis during 15 passages showed an increase of 1 CAG repeat every 5 passages. Further study suggested that this line has an atypical allele associated with hastening the onset and progression of the disease.
