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

Authors:
Yalan Zhou, Yutong Jing, Shengru Mao, Jian Liu, Zekai Cui, Yini Wang, Juan Chen, Hon Fai Chan, Shibo Tang, Jiansu Chen
In:
Source: Stem Cell Res
Publication Date: (2020)
Issue: 45: 101793
Research Area:
Stem Cells
Cells used in publication:
PBMC, human
Species: human
Tissue Origin: blood
Platform:
Nucleofector® I/II/2b
Experiment

PBMC were isolated from patient’s peripheral blood and cultured for up to 5 days. Program U-008 and episomal vectors were used for reprogramming. After reprogramming, first colonies appeared after weeks.

Abstract

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.