Article
Correction of ATM mutations in iPS cells from two ataxia-telangiectasia patients restores DNA damage and oxidative stress responses.
Human molecular genetics - 15 Apr 2020
Ovchinnikov Dmitry A, Withey Sarah L, Leeson Hannah C, Lei U Wang, Sundarrajan Ashmitha, Junday Keerat, Pewarchuk Michelle, Yeo Abrey J, Kijas Amanda W, Lavin Martin F, Wolvetang Ernst J
Abstract excerpt
Patients with ataxia-telangiectasia (A-T) lack a functional ATM kinase protein and exhibit defective repair of DNA double-stranded breaks and response to oxidative stress. We show that CRISPR/Cas9-assisted gene correction combined with piggyBac (PB) transposon-mediated excision of the selection cassette enables seamless restoration of functional ATM alleles in induced pluripotent stem cells from an A-T patient...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.