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)
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.
Authors
- Trupti Agrawal (ORCID: https://orcid.org/0000-0002-2346-9958)
- Chitra Kannabiran (ORCID: https://orcid.org/0000-0001-8435-0320)
- Sundaram Acharya (ORCID: https://orcid.org/0000-0001-5164-6328)
- Debojyoti Chakraborty (ORCID: https://orcid.org/0000-0003-1460-7594)
- Indumathi Mariappan
- Savitri Maddileti
- Subhadra Jalali (ORCID: https://orcid.org/0000-0003-4157-0539)
- Sudipta Mahato
Institutions
- Institute of Genomics and Integrative Biology (IN)
- L V Prasad Eye Institute (IN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1016/j.scr.2025.103703
- Citations
- 1
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Department of Biotechnology, Ministry of Science and Technology, India
- Department of Science and Technology, Ministry of Science and Technology, India
- Indian Council of Medical Research
- University Grants Commission
- Hyderabad Eye Research Foundation
- Science and Engineering Research Board