Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation
Summary
We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm. Copyright © 2019. Published by Elsevier B.V.
| Authors | Zhang X, Moon SY, Zhang D, Chen SC, Lamey T, Thompson JA, McLaren T, De Roach JN, McLenachan S, Chen FK |
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| Journal | Stem cell research |
| Publication Date | 2019 May;37:101452 |
| PubMed | 31059986 |
| DOI | 10.1016/j.scr.2019.101452 |