SI-257, 288, 289, 410, 411, 412, 416, 417, 421, 422, 423: (CFTR) Cystic Fibrosis
• Cell line states:
o SI-257: affected (W1282X/R117C)
o SI-288, 289, 411, 412: affected (?F508/ ?F508)
o SI-410, 422: affected (N1303K/ ?F508)
o SI-416, 417: affected (?F508/ 1717-1 G>A)
o SI-421, 423: carrier (N/?F508)
• Defects in CFTR are the cause of cystic fibrosis (CF); also known as mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common generalized disorder of exocrine gland function which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes.