Modeling the genomic instability of Huntington’s Disease with iPSC technology

https://axolbio.com/publications/modeling-the-genomic-instability-of-huntingtons-disease-with-ipsc-technology/?utm_source=azonetwork_customized_email&utm_medium=email&utm_campaign=modeling_the_genomic_instability_of_huntington_s_disease Modeling the genomic instability of Huntington’s disease with iPSC technology Axol Bioscience supports the HD community by developing iPSC lines from five HD patients and one asymptomatic carrier, including the CENSOi019‑B line (HTT: 14/125 CAG, now CAG143). This line contains an atypical allele that displays instability in culture and is associated with accelerated disease onset. Striatal neurons derived from this iPSC line provide a powerful model for longitudinal studies of repeat expansion and neurodegeneration, giving researchers a unique resource for advancing HD research and supporting drug discovery. HD is caused by CAG trinucleotide repeat expansion in the HTT gene, producing mutant huntingtin (mHTT) with toxic gain‑of‑function properties. CAG repeat length influences disease onset and progression, and the region is somatically unstable, expanding over time. Detecting and monitoring CAG expansion is key for understanding disease variability and evaluating new therapies. Human iPSC‑derived models retain the donor’s genetic background, CAG repeat mutations and can be differentiated into relevant cell populations including striatal neurons. These models provide a scalable and physiologically relevant platform for HD research. Learn more about modeling the genomic instability of Huntington’s disease with iPSC technology in this new whitepaper.