Modeling and correction of structural variations in patient-derived iPSCs using CRISPR/Cas9

Chul-Yong Park, Jin Jea Sung, Sang-Hwi Choi, Dongjin R Lee, In-Hyun Park & Dong-Wook Kim; Nature Protocols 11, 2154–2169 (2016) doi:10.1038/nprot.2016.129 Published online 06 October 2016

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.

 Modeling and correction of structural variations in patient-derived iPSCs using CRISPR/Cas9