Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing
Summary
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder, which is caused mostly by frame-disrupting, out-of-frame variation in the dystrophin (DMD) gene. Loss-of- function mutations are the most common type of mutation in DMD, accounting for approximately 60-90% of all DMD variations. In this study, we used adenine base editing to generate a human embryonic stem cell line with splice-site mutations to mimic exon deletion variants in clinical Duchenne muscular dystrophy patients. This cell line has differentiation potential and a normal karyotypic. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Jin H, Fu H, Wang J, Wang Z, Liu J, Han F, Zheng H, Jiang Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103343 |
| PubMed | 38428348 |
| DOI | 10.1016/j.scr.2024.103343 |