Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant
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.
Authors
- Danial Roshandel (ORCID: https://orcid.org/0000-0002-6716-6406)
- Terri L. McLaren (ORCID: https://orcid.org/0000-0003-3195-669X)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Shang‐Chih Chen (ORCID: https://orcid.org/0000-0002-5746-6982)
- Tina M. Lamey (ORCID: https://orcid.org/0000-0002-4608-4073)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Di Huang (ORCID: https://orcid.org/0000-0001-5657-0625)
- Samuel McLenachan (ORCID: https://orcid.org/0000-0001-5732-7387)
- Dan Zhang (ORCID: https://orcid.org/0000-0003-1728-9069)
Institutions
- Lions Eye Institute (AU)
- The University of Western Australia (AU)
- Royal Perth Hospital (AU)
- Sir Charles Gairdner Hospital (AU)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-04-03
- DOI
- https://doi.org/10.1016/j.scr.2025.103705
- Primary Topic
- Tissue Engineering and Regenerative Medicine
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- McCusker Charitable Foundation
- National Health and Medical Research Council