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

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.

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Publication Details

Journal
Stem Cell Research
Published
2025-08-22
DOI
https://doi.org/10.1016/j.scr.2025.103816
Citations
1
Primary Topic
Congenital limb and hand anomalies
Type
article
Field-Weighted Citation Impact
1.64

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article

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

Jessica Nava, German Atzin Mora-Roldan, Juan Carlos Zenteno, Oscar Javier Parada-Parra et al.
1 citations
Stem Cell Research
Congenital limb and hand anomalies
1.64
article

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

Jessica Nava, German Atzin Mora-Roldan, Juan Carlos Zenteno, Oscar Javier Parada-Parra, Arturo Hernández‐Cruz, Guillermo Galvez-Romero
article en
1 citations

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.

Stem Cell ResearchVol. 88
Institute of Ophthalmology (MX), Universidad Nacional Autónoma de México (MX)
Velux Stiftung, Consejo Nacional de Ciencia y Tecnología
Zero hunger
Openalex Percentile: Top 14%
Congenital limb and hand anomalies
1.64
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