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| Item Type: | Article |
|---|---|
| Title: | Efficient and precise CRISPR/Cas9-mediated MECP2 modifications in human-induced pluripotent stem cells |
| Creators Name: | Le, T.T.H., Tran, N.T., Dao, T.M.L., Nguyen, D.D., Do, H.D., Ha, T.L., Kühn, R., Nguyen, T.L., Rajewsky, K. and Chu, V.T. |
| Abstract: | Patients with Rett syndrome (RTT) have severe mental and physical disabilities. The majority of RTT patients carry a heterozygous mutation in methyl-CpG binding protein 2 (MECP2), an X-linked gene encoding an epigenetic factor crucial for normal nerve cell function. No curative therapy for RTT syndrome exists, and cellular mechanisms are incompletely understood. Here, we developed a CRISPR/Cas9-mediated system that targets and corrects the disease relevant regions of the MECP2 exon 4 coding sequence. We achieved homologous recombination (HR) efficiencies of 20% to 30% in human cell lines and iPSCs. Furthermore, we successfully introduced a MECP2(R270X) mutation into the MECP2 gene in human induced pluripotent stem cells (iPSCs). Consequently, using CRISPR/Cas9, we were able to repair such mutations with high efficiency in human mutant iPSCs. In summary, we provide a new strategy for MECP2 gene targeting that can be potentially translated into gene therapy or for iPSCs-based disease modeling of RTT syndrome. |
| Keywords: | MECP2 Mutations, CRISPR/Cas9, RETT Syndrome, Homologous Recombination, iPSCs |
| Source: | Frontiers in Genetics |
| ISSN: | 1664-8021 |
| Publisher: | Frontiers Media SA |
| Volume: | 10 |
| Page Range: | 625 |
| Date: | July 2019 |
| Official Publication: | https://doi.org/10.3389/fgene.2019.00625 |
| PubMed: | View item in PubMed |
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