Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient

Summary

We have established the patient-specific induced pluripotent stem (iPS) cell line CSUASOi004-A by using peripheral blood mononuclear cells (PBMCs) of a retinitis pigmentosa (RP) patient with a PRPF6 gene mutation (c.G2699A:p.R900H). CSUASOi004-A was established by a non-integrative method with four episomal plasmids containing the Yamanaka factors. The cell line with the specific point mutation had the typical features of normal iPS cells. For instance, the cells expressed pluripotency markers, generated all three germ layers and had a normal karyotype, and they can serve as a model for unravelling the pathogenic mechanisms underlying PRPF6-associated retinal degeneration. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zhou Y, Jing Y, Mao S, Liu J, Cui Z, Wang Y, Chen J, Chan HF, Tang S, Chen J
Journal Stem cell research
Publication Date 2020 Apr 20;45:101793
PubMed 32335390
DOI 10.1016/j.scr.2020.101793

Research Projects

Cell Lines