Huntington disease (HD) is an autosomal dominant, neurodegenerative disease caused by a CAG repeat expansion within the coding sequence of the HTT gene, resulting in a highly toxic protein with an expanded polyglutamine stretch that forms typical protein aggregates throughout the brain. We generated human induced pluripotent stem cells (hiPSCs) from two HD patients using non-integrating Sendai virus (SeV). The hiPSCs display a normal karyotype, express all pluripotency markers, have the same CAG repeat expansion as the original fibroblasts and are able to differentiate into the three germ layers in vitro.

doi.org/10.1016/j.scr.2019.101498, hdl.handle.net/1765/118427
Stem Cell Research
Erasmus MC: University Medical Center Rotterdam

van der Graaf, L.M. (Linda M.), Gardiner, S.L. (Sarah L.), Tok, M. (Merve), Brands, T. (Tom), Boogaard, M., Pepers, B., … van Roon-Mom, W. (2019). Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease. Stem Cell Research, 39. doi:10.1016/j.scr.2019.101498