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
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.
Authors
- Alfredo Dueñas Rey (ORCID: https://orcid.org/0000-0002-8401-5343)
- Bart P. Leroy (ORCID: https://orcid.org/0000-0002-9899-2081)
- Mehrnaz Ghazvini (ORCID: https://orcid.org/0000-0001-7859-6930)
- Kathleen Claes (ORCID: https://orcid.org/0000-0003-0841-7372)
- Julie De Zaeytijd (ORCID: https://orcid.org/0000-0003-4035-6389)
- Filip Van den Broeck (ORCID: https://orcid.org/0009-0006-3330-6497)
- Frauke Coppieters (ORCID: https://orcid.org/0000-0001-7224-0992)
- Elfride De Baere (ORCID: https://orcid.org/0000-0002-5609-6895)
- Annelies Dheedene (ORCID: https://orcid.org/0009-0006-8210-3944)
- Hanne Lenaerts
- Manon Bouckaert (ORCID: https://orcid.org/0000-0002-1835-2405)
Institutions
- HOGENT University of Applied Sciences and Arts (BE)
- Ghent University Hospital (BE)
- Ghent University (BE)
- Cancer Research Institute Ghent (BE)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-05-18
- DOI
- https://doi.org/10.1016/j.scr.2025.103739
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Fonds Wetenschappelijk Onderzoek
- Universiteit Gent
- Vlaamse regering