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
Summary
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. Copyright © 2021. Published by Elsevier B.V.
| Authors | Harding P, Lima Cunha D, Méjécase C, Eintracht J, Toualbi L, Sarkar H, Moosajee M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Mar;51:102184 |
| PubMed | 33524672 |
| PubMed Central | PMC7957338 |
| DOI | 10.1016/j.scr.2021.102184 |