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 McLaren Tina M Lamey John N De Roach Fred K Chen Samuel McLenachan

Published 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.

Keyphrases

induced pluripotent stem cells
optical coherence tomography
diabetic retinopathy
genome wide
copy number
poor prognosis
genome wide identification
endothelial cells
binding protein
gene expression
optic nerve
dna methylation
long non coding rna
genome wide analysis
pluripotent stem cells