Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6

Stem Cell Res. 2021 Mar:51:102184. doi: 10.1016/j.scr.2021.102184. Epub 2021 Jan 18.

Abstract

A human induced pluripotent stem cell (hiPSC) line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia. The patient had a heterozygous missense mutation in PAX6 c.372C>A, p.(Asn124Lys), validated in the fibroblasts through Sanger sequencing. Fibroblasts derived from a skin biopsy were reprogrammed using integration free episomal reprogramming. The established iPSC line was found to express pluripotency markers, exhibit differentiation potential in vitro and display a normal karyotype. This cell line will act as a tool for disease modelling of microphthalmia and aniridia, identification of therapeutic targets and drug screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aniridia*
  • Fibroblasts
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Microphthalmos*
  • Mutation
  • Mutation, Missense / genetics
  • PAX6 Transcription Factor / genetics

Substances

  • PAX6 Transcription Factor
  • PAX6 protein, human