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Generation of an induced pluripotent stem cell line (MHHi018-A) from a patient with Cystic Fibrosis carrying p.Asn1303Lys (N1303K) mutation.

Stem cell research - 1 Apr 2020

Merkert Sylvia, Schubert Madline, Haase Alexandra, Janssens Hettie M, Scholte Bob, Lachmann Nico, Göhring Gudrun, Martin Ulrich

Abstract excerpt

Cystic Fibrosis (CF) is a genetic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene which encodes for a chloride ion channel regulating the balance of salt and water across secretory epithelia. Here we generated an iPSC line from a CF patient homozygous for the p.Asn1303Lys mutation, a Class II folding defect mutation. This iPSC line provides a useful resource for...

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PMID: 32220772
DOI: 10.1016/j.scr.2020.101744

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