Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene
Summary
Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation. Here, we corrected the mutation sites in PRPF8 (c.C5792T) using an adenine base editor and then generated an isogenic control (CSUASOi006-A-1), which is a valuable cell resource for research of RP. Copyright © 2024. Published by Elsevier B.V.
| Authors | Sun X, Liang Y, Duan C, Liu X, Zhou Y, Mao S, Cui Z, Gu J, Ding C, Chen J, Tang S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103572 |
| PubMed | 39388803 |
| DOI | 10.1016/j.scr.2024.103572 |