Abstract
Genome engineering technology using engineered nucleases has been rapidly developed, enabling the efficient correction of simple mutations. However, the precise correction of structural variations such as large inversions remains limited. Here, we describe a detailed procedure for the modeling or correction of large chromosomal rearrangements and short nucleotide repeat expansions using engineered nucleases in human induced pluripotent stem cells (hiPSCs) from a healthy donor and patients with structural variations. This protocol enables the correction of large inverted segments and short nucleotide repeat expansions in diseases such as hemophilia A, fragile X syndrome, Hunter syndrome, and Friedreich's ataxia.Support or Funding InformationC.Y. P. was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT & Future Planning (2016R1C1B1008742). D.W.K. was supported by grants from the National Research Foundation of Korea funded by the Ministry of Science & ICT (the Bio & Medical Technology Development Program, 2017M3A9B4042580) and from Korean Ministry of Health & Welfare (HI15C0916).This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.
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