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Targeted replacement of full-length CFTR in human airway stem cells by CRISPR-Cas9 for pan-mutation correction in the endogenous locus
Journal article   Peer reviewed

Targeted replacement of full-length CFTR in human airway stem cells by CRISPR-Cas9 for pan-mutation correction in the endogenous locus

Sriram Vaidyanathan, Ron Baik, Lu Chen, Dawn T. Bravo, Carlos J. Suarez, Shayda M. Abazari, Ameen A. Salahudeen, Amanda M. Dudek, Christopher A. Teran, Timothy H. Davis, …
Molecular therapy, Vol.30(1), pp.223-237
01/05/2022
DOI: 10.1016/j.ymthe.2021.03.023
PMCID: PMC8753290
PMID: 33794364

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Abstract

Cystic fibrosis (CF) is a monogenic disease caused by impaired production and/or function of the CF transmembrane conductance regulator (CFTR) protein. Although we have previously shown correction of the most common pathogenic mutation, there are many other pathogenic mutations throughout the CF gene. An autologous airway stem cell therapy in which the CFTR cDNA is precisely inserted into the CFTR locus may enable the development of a durable cure for almost all CF patients, irrespective of the causal mutation. Here, we use CRISPR-Cas9 and two adeno-associated viruses (AAVs) carrying the two halves of the CFTR cDNA to sequentially insert the full CFTR cDNA along with a truncated CD19 (tCD19) enrichment tag in upper airway basal stem cells (UABCs) and human bronchial epithelial cells (HBECs). The modified cells were enriched to obtain 60%-80% tCD19+ UABCs and HBECs from 11 different CF donors with a variety of mutations. Differentiated epithelial monolayers cultured at air-liquid the CFTR function in non-CF controls. Thus, our study enables the development of a therapy for almost all CF patients, including patients who cannot be treated using recently approved modulator therapies.
Biotechnology & Applied Microbiology Genetics & Heredity Life Sciences & Biomedicine Medicine, Research & Experimental Research & Experimental Medicine Science & Technology

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