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


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

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