Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defects in motile cilia and is known to occur in about 1 in 20,000 live births (Horani and Ferkol, 2018). Among the many genes associated with PCD, NME5, a gene encoding a protein involved in ciliary function, was recently repor...

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Main Authors:	Anais Sahabian, Laura von Schlehdorn, Nora Drick, Isabell Pink, Julia Dahlmann, Alexandra Haase, Gudrun Göhring, Tobias Welte, Ulrich Martin, Felix C. Ringshausen, Ruth Olmer
Format:	Article
Language:	English
Published:	Elsevier 2020-10-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506120302890

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collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Anais Sahabian Laura von Schlehdorn Nora Drick Isabell Pink Julia Dahlmann Alexandra Haase Gudrun Göhring Tobias Welte Ulrich Martin Felix C. Ringshausen Ruth Olmer
spellingShingle	Anais Sahabian Laura von Schlehdorn Nora Drick Isabell Pink Julia Dahlmann Alexandra Haase Gudrun Göhring Tobias Welte Ulrich Martin Felix C. Ringshausen Ruth Olmer Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8)) Stem Cell Research
author_facet	Anais Sahabian Laura von Schlehdorn Nora Drick Isabell Pink Julia Dahlmann Alexandra Haase Gudrun Göhring Tobias Welte Ulrich Martin Felix C. Ringshausen Ruth Olmer
author_sort	Anais Sahabian
title	Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))
title_short	Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))
title_full	Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))
title_fullStr	Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))
title_full_unstemmed	Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))
title_sort	generation of two hipsc clones (mhhi019-a, mhhi019-b) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the nme5 gene (c.415dela (p.ile139tyrfs*8))
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2020-10-01
description	Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defects in motile cilia and is known to occur in about 1 in 20,000 live births (Horani and Ferkol, 2018). Among the many genes associated with PCD, NME5, a gene encoding a protein involved in ciliary function, was recently reported to be involved in PCD (Anderegg et al., 2019; Cho et al., 2020). We have established two human induced pluripotent stem cell clones from a PCD patient carrying a deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8)).
url	http://www.sciencedirect.com/science/article/pii/S1873506120302890
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spelling	doaj-59219499a3624f8aba124d363674e36c2020-11-25T03:37:46ZengElsevierStem Cell Research1873-50612020-10-0148101988Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs8))Anais Sahabian0Laura von Schlehdorn1Nora Drick2Isabell Pink3Julia Dahlmann4Alexandra Haase5Gudrun Göhring6Tobias Welte7Ulrich Martin8Felix C. Ringshausen9Ruth Olmer10Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH – Research Center for Translational 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), GermanyLeibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH – Research Center for Translational 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), GermanyBiomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, GermanyBiomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, GermanyLeibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH – Research Center for Translational 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), GermanyLeibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH – Research Center for Translational 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), GermanyDepartment of Human Genetics, Hannover Medical School, 30625 Hannover, GermanyBiomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, GermanyLeibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH – Research Center for Translational 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), Germany; Corresponding authors.Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, GermanyLeibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH – Research Center for Translational 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), Germany; Corresponding authors.Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defects in motile cilia and is known to occur in about 1 in 20,000 live births (Horani and Ferkol, 2018). Among the many genes associated with PCD, NME5, a gene encoding a protein involved in ciliary function, was recently reported to be involved in PCD (Anderegg et al., 2019; Cho et al., 2020). We have established two human induced pluripotent stem cell clones from a PCD patient carrying a deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs8)).http://www.sciencedirect.com/science/article/pii/S1873506120302890

Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))

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