Gene augmentation and read-through rescue channelopathy in an iPSC-RPE model of congenital blindness
Pawan Kumar Shahi, Dalton Hermans, Divya Sinha, Simran Brar, Hannah M. Moulton, Sabrina Stulo, Katarzyna D. Borys, Elizabeth E. Capowski, De‐Ann M. Pillers, David M. Gamm, Bikash Ranjan Pattnaik
The paper tests read-through drugs and gene therapy in patient-derived iPSC-RPE cells with a KCNJ13 mutation to restore Kir7.1 channel function and rescue channelopathy in LCA16.
The American Journal of Human Genetics · Jan 24, 2019Peer-reviewedGenetics