Whole Exome Sequencing Reveals 228 Conserved Mutations in LRRK2 Parkinson's Patient-derived iPSC Lines

6/12/2013 — 6/15/2013

Poster presented at the ISSCR Annual Meeting


Abstract: To provide a better research tool for studying Parkinson’s disease, we generated three iPSC lines, from dermal fibroblasts of a donor diagnosed with Parkinson’s disease. To more effectively model Parkinson disease, we have sequenced all exons of the Parkinson’s iPSC lines along with their parent. Importantly, there are three amino acid changes within the LRRK2 gene at positions 50 (R50H), 723 (I723V), and 2397 (M2397T), which have previously been reported in Parkinson’s patients.