Robust, validated cell, disease and animal models are critical to accelerate research and drug discovery and development for CFTR nonsense mutations. A lack of model systems to support investigation of CFTR nonsense mutations has previously served as a barrier to progress. At Emily’s Entourage, we are deeply committed to investing in and developing the most rigorously tested model systems and research resources.
CFTR nonsense mutation resources available to the research community include:
cDNA constructs expressing mutated (W1282X-CFTR) and truncated CFTR produced by the W1282X-CFTR mutation (CFTR1281) are available from Peter Haggie, PhD, University of California, San Francisco. Constructs were generated in pcDNA3.1/Zeo(+), and can be readily subcloned into alternative vectors. Further information is available here. Generation of these cDNA constructs was supported by Emily’s Entourage.
Rat thyroid epithelial cell models
Immortalized airway epithelial cell models
Gene edited airway epithelial cell models
Growth enhanced airway epithelial cell models
Human primary airway epithelial cells and intestinal organoids
Human primary nasal epithelial cells and stem cell models
Stem cell model
Murine models to investigate Cystic Fibrosis (CF) pathology, including models of CF caused by nonsense mutations are available from Craig Hodges, PhD, at the Case Western Reserve University Cystic Fibrosis Mouse Model Core.
For questions about these resources, please Contact Us.