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|