Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant
Summary
The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: OCT4, SOX2, KLF4, LMYC, LIN28, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhang D, Huang D, Chen SC, Roshandel D, Lamey TM, Thompson JA, McLaren TL, Chen FK, McLenachan S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Apr 2;86:103705 |
| PubMed | 40220513 |
| DOI | 10.1016/j.scr.2025.103705 |