Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids


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. © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Authors Zhang X, Zhang D, Thompson JA, Chen SC, Huang Z, Jennings L, McLaren TL, Lamey TM, De Roach JN, Chen FK, McLenachan S
Journal Molecular genetics & genomic medicine
Publication Date 2021 Mar;9(3):e1601
PubMed 33497524
PubMed Central PMC8104174
DOI 10.1002/mgg3.1601

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