Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A];[806_810del] variants in the RDH12 gene
Summary
Biallelic variants in RDH12 are associated with early-onset retinal dystrophy and Leber congenital amaurosis. RDH12 plays a role in the phototransduction cascade by converting all-trans retinal into all-trans retinol in the photoreceptor inner segments. Induced pluripotent stem cells (iPSCs) were generated and fully characterized from two patients that are compound heterozygous for the RDH12 c.[-123C>T;701G>A];[806_810del], p.[(?;Arg234His)];[(Ala269Glyfs*2)] variants. These iPSC lines can be used for differentiation towards retinal models to evaluate disease mechanisms and novel therapies. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Bouckaert M, Van Den Broeck F, Ghazvini M, Rey AD, Lenaerts H, Dheedene A, Claes K, De Baere E, Leroy BP, De Zaeytijd J, Coppieters F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Aug;86:103739 |
| PubMed | 40446715 |
| DOI | 10.1016/j.scr.2025.103739 |