Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)
Summary
Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in RD3. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an isogenic, mutation-corrected iPSC line (LVPEIi006-B-1), using an en31FnCas9-based adenine base editor (ABE) system. Both lines were clonally expanded and genotyped to confirm the presence of patient-specific mutation and desired base correction in the edited line. Both lines maintained their stemness, pluripotency, genomic integrity and could differentiate into retinal organoids. The mutation-corrected, heterozygous iPSC-derived retinal organoids displayed a partial restoration of normal RD3 mRNA splicing. Copyright © 2025 Hyderabad Eye Research Foundation, LV Prasad Eye Institute. Published by Elsevier B.V. All rights reserved.
| Authors | Mahato S, Maddileti S, Agrawal T, Acharya S, Kannabiran C, Jalali S, Chakraborty D, Mariappan I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Apr 1;85:103703 |
| PubMed | 40188639 |
| DOI | 10.1016/j.scr.2025.103703 |