Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier

Samuel McLenachan, Dan Zhang, Xiao Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Sue Fletcher, Fred K. Chen

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2 Citations (Scopus)


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.

Original languageEnglish
Article number101357
Number of pages5
JournalStem Cell Research
Publication statusPublished - Jan 2019

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