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

Poster
Astrocytes and oligodendrocytes from neural stem cells.

ISSCR Annual Meeting 2013

Boston, Massachusetts, United States

June 12, 2013

Abstract

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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