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

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

doi:10.1016/j.scr.2020.101744

Stem Cell Research (Apr 2020)

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

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

Affiliations

Sylvia Merkert: Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), 30625 Hannover, Germany; Corresponding author at: Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany.
Madline Schubert: Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), 30625 Hannover, Germany
Alexandra Haase: Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), 30625 Hannover, Germany
Hettie M. Janssens: Department of Pediatrics, Division of Respiratory Medicine and Allergology, Erasmus MC-Sophia Children's Hospital, University Hospital Rotterdam, Rotterdam, The Netherlands
Bob Scholte: Department of Pediatrics, Division of Respiratory Medicine and Allergology, Erasmus MC-Sophia Children's Hospital, University Hospital Rotterdam, Rotterdam, The Netherlands; Department of Cell Biology, Erasmus MC, University Hospital Rotterdam, Rotterdam, The Netherlands
Nico Lachmann: Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), 30625 Hannover, Germany; RG Translational Hematology of Congenital Diseases, Institute of Experimental Hematology, REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany
Gudrun Göhring: Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany
Ulrich Martin: Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), 30625 Hannover, Germany

DOI: https://doi.org/10.1016/j.scr.2020.101744
Journal volume & issue: Vol. 44

Abstract

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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 disease modeling and to investigate the pharmacological response to CFTR modulators in iPSC derived epithelia.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.sciencedirect.com/journal/stem-cell-research

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