Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.
Xiao ZhangDan ZhangJennifer A ThompsonShang-Chih ChenZhiqin HuangLuke JenningsTerri L McLarenTina M LameyJohn N De RoachFred K ChenSamuel McLenachanPublished in: Molecular genetics & genomic medicine (2021)
Our results demonstrate the expression of novel CLN3 transcripts in human retinal tissues. The c.175G>A variant alters splicing of the CLN3 pre-mRNA, leading to features consistent with CLN3 deficiency, which were prevented by gene correction.