Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation


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
Journal Stem cell research
Publication Date 2019 May;37:101452
PubMed 31059986
DOI 10.1016/j.scr.2019.101452

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