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

Stem Cell Res. 2025 Oct:88:103816. doi: 10.1016/j.scr.2025.103816. Epub 2025 Aug 22.

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.

Keywords: Anterior segment dysgenesis; Aphakia; FOXE3; Induced pluripotent stem cells; Sclerocornea.

MeSH terms

  • Aphakia* / genetics
  • Aphakia* / pathology
  • Cell Line
  • Cornea* / abnormalities
  • Cornea* / abnormalities
  • Cornea* / pathology
  • Corneal Diseases* / genetics
  • Corneal Diseases* / pathology
  • Forkhead Transcription Factors* / genetics
  • Forkhead Transcription Factors* / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / cytology
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology

Substances

  • Forkhead Transcription Factors
  • FOXE3 protein, human

Supplementary concepts

  • Sclerocornea