Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant
Summary
The human induced pluripotent stem cell (iPSC) line LEIi019-A was generated from a patient with early-onset pattern dystrophy caused by a heterozygous mutation NM_001270525.1:c.259G>A (p.Glu87Lys) in OTX2. Patient-derived dermal fibroblasts were reprogrammed using episomal plasmids containing reprogramming factors OCT4, SOX2, KLF4, MYCL, LIN28, TP53 shRNA and miR-302/367. The iPSC line expressed pluripotency markers, displayed a normal 46,XY karyotype and demonstrated the ability to differentiate into the three primary germ layers, retinal organoids and retinal pigment epithelial cells. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhang D, Jennings L, Chen SC, Zaw K, Lamey TM, Thompson JA, McLaren TL, Chen FK, McLenachan S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Aug;78:103461 |
| PubMed | 38852423 |
| DOI | 10.1016/j.scr.2024.103461 |