A stem cell-based platform for functional analysis of genetic variants in lung disease
Daniel J. Wallman, Sachiko T. Homma, Madeleine Finton, M.L Beermann, Anjali Jacob, Semil P. Choksi, Steven D. Pletcher, Huihui Xu, Pushpinder Bawa, Jeremy F. Reiter, Amjad Horani, Steven L. Brody, Andrew C. Berical, Finn J Hawkins
This study develops an iPSC-based platform to functionally analyze genetic variants in lung disease, demonstrating its application in diagnosing a variant of uncertain significance in primary ciliary dyskinesia.
bioRxiv · Jul 28, 2025 · PreprintCell Biology