Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation
Summary
Anterior segment dysgeneses (ASDs) are a heterogeneous group of ocular developmental anomalies commonly associated with severe visual disability in pediatric age. Here, we report the generation of the iPSC line IOCVi002-A from a patient with a homozygous pathogenic c.292 T > C (p.(Y98H)) variant in the FOXE3 gene causing an ASD phenotype characterized by sclerocornea and aphakia. IOCVi002-A cells shows normal morphology, typical stemness and pluripotency. This iPSC line can be used for in vitro disease modeling for developmental ocular anomalies affecting anterior structures of the eye. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Nava J, Galvez-Romero G, Mora-Roldan G, Parada-Parra OJ, Hernandez-Cruz A, Zenteno JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Aug 22;88:103816 |
| PubMed | 40850233 |
| DOI | 10.1016/j.scr.2025.103816 |