Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier
Summary
We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)). A second line, LEIi009-A, was generated from a related non-penetrant carrier of the same mutation with no retinal disease. Reprogramming of patient dermal fibroblasts using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA generated cell lines displaying pluripotent stem cell marker expression, a normal karyotype and the capability to differentiate into the three germ layer lineages. Resource table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | McLenachan S, Zhang D, Zhang X, Chen SC, Lamey T, Thompson JA, McLaren T, De Roach JN, Fletcher S, Chen FK |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Jan;34:101357 |
| PubMed | 30611018 |
| DOI | 10.1016/j.scr.2018.11.018 |