AI Article Synopsis
- Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is crucial for chloride channels, and defects like the G542X mutation lead to cystic fibrosis by stopping protein production.
- A new induced pluripotent stem cell (iPSC) line, IGGi002A, was created from nasal cells with the G542X mutation and shows normal characteristics for further research.
- This iPSC line can help in modeling cystic fibrosis, allowing for better understanding of the disease and potential personalized treatment options through techniques like genome editing.
Article Abstract
Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel defective in cystic fibrosis (CF). Several CFTR mutations are causative of CF, among which G542X is a nonsense mutation introducing a premature stop codon which prevents CFTR protein synthesis. We generated a new iPSC line from nasal cells carrying G542X homozygous mutation for CFTR: IGGi002A. This cell line has normal female karyotype, express pluripotency markers and could differentiate into three germ layers in vitro. This iPSC line may be used for disease modeling (cell differentiation and organoid formation) and development of personalized treatments by genome editing or pharmacological screening.
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| http://dx.doi.org/10.1016/j.scr.2023.103232 | DOI Listing |
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