Work

Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation

Year: 2025

Type: article

Abstract: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103816

Authors: Jessica Nava, Guillermo Galvez-Romero, German Mora-Roldan, Oscar J. Parada-Parra, Arturo Hernandez-Cruz, Juan Carlos Zenteno

Institutions: Institute of Ophthalmology, Universidad Nacional Autónoma de México

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360