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

Xiao Zhang; Sang Yoon Moon; Dan Zhang; Shang-Chih Chen; Tina Lamey; Jennifer A. Thompson; Terri McLaren; John N. De Roach; Samuel McLenachan; Fred K. Chen

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

2019

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.

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