Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs) from a SCA1 patient and his non-affected sister by using non-integrating Sendai Viruses (SeV). The resulting hiPSCs are SeVfree, express pluripotency markers, display a normal karyotype, retain the mutation (length of the CAG repeat expansion in the ATXN1 gene) and are able to differentiate into the three germ layers in vitro.

dx.doi.org/10.1016/j.scr.2018.03.018, hdl.handle.net/1765/105858
Stem Cell Research
Erasmus MC: University Medical Center Rotterdam

Buijsen, R.A.M, Gardiner, S.L. (Sarah L.), Bouma, M.J. (Marga J.), van der Graaf, L.M. (Linda M.), Boogaard, M.W, Pepers, B.A, … van Roon-Mom, W.M.C. (2018). Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B. Stem Cell Research, 29, 125–128. doi:10.1016/j.scr.2018.03.018