Whole Exome Sequencing Reveals 228 Conserved Mutations in LRRK2 Parkinson's Patient-derived iPSC Lines
ISSCR Annual Meeting 2013
Boston, Massachusetts, United StatesJune 12, 2013
To provide a better research tool for studying Parkinson’s disease, we generated 3 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 3 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.
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