Targeted gene correction and functional recovery in achondroplasia patient-derived iPSCs

Abstract

the point mutation affected the reprogramming ability of AD-MSCs. By powerful gene-editing tool -CRISPR-Cas9, we successfully obtained 2 completely corrected knock-in cell lines from urine-derived iPSCs. These corrected iPSCs still displayed pluripotency and maintained a normal karyotype.Sequencing analysis of potential offtarget sites suggested no off-target indels were identified. Our study is the first time to obtain ACH iPSCs from urine, the first to obtain non-integrated ACH iPSCs, and the first to perform gene correction in ACH research.