Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor β (TGFβ) pat...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-03-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612030009X |
| _version_ | 1818129386227892224 |
|---|---|
| author | Praeploy Pongpamorn Julia Dahlmann Alexandra Haase Carolin Theresa Ebeling Sylvia Merkert Gudrun Göhring Nico Lachmann Andreas Martens Axel Haverich Ulrich Martin Ruth Olmer |
| author_facet | Praeploy Pongpamorn Julia Dahlmann Alexandra Haase Carolin Theresa Ebeling Sylvia Merkert Gudrun Göhring Nico Lachmann Andreas Martens Axel Haverich Ulrich Martin Ruth Olmer |
| author_sort | Praeploy Pongpamorn |
| collection | DOAJ |
| description | Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor β (TGFβ) pathway, LDS is associated with a signature of high TGFβ signaling. We generated induced pluripotent stem cell (iPSC) lines from three adult LDS-patients (two male, one female) of a family with a heterozygous point mutation in exon 4 of the TGFβ-receptor1 (TGFBR1) gene (p.M253I; c.759G>A). The lines offer a valuable resource for modeling the pathophysiology of genetically mediated aortic disease. |
| first_indexed | 2024-12-11T07:48:19Z |
| format | Article |
| id | doaj.art-7e798b378db64ffe856286961c6d4094 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-11T07:48:19Z |
| publishDate | 2020-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-7e798b378db64ffe856286961c6d40942022-12-22T01:15:25ZengElsevierStem Cell Research1873-50612020-03-0143Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 genePraeploy Pongpamorn0Julia Dahlmann1Alexandra Haase2Carolin Theresa Ebeling3Sylvia Merkert4Gudrun Göhring5Nico Lachmann6Andreas Martens7Axel Haverich8Ulrich Martin9Ruth Olmer10Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH-Cluster of Excellence, 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-Cluster of Excellence, 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 author.Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH-Cluster of Excellence, 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-Cluster of Excellence, 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-Cluster of Excellence, Hannover Medical School, 30625 Hannover, GermanyDepartment of Human Genetics, Hannover Medical School, 30625 Hannover, GermanyREBIRTH-Cluster of Excellence, Hannover Medical School, 30625 Hannover, Germany; RG Translational Hematology of Congenital Diseases, Institute of Experimental Hematology, 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-Cluster of Excellence, 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-Cluster of Excellence, 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-Cluster of Excellence, 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-Cluster of Excellence, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), GermanyLoeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor β (TGFβ) pathway, LDS is associated with a signature of high TGFβ signaling. We generated induced pluripotent stem cell (iPSC) lines from three adult LDS-patients (two male, one female) of a family with a heterozygous point mutation in exon 4 of the TGFβ-receptor1 (TGFBR1) gene (p.M253I; c.759G>A). The lines offer a valuable resource for modeling the pathophysiology of genetically mediated aortic disease.http://www.sciencedirect.com/science/article/pii/S187350612030009X |
| spellingShingle | Praeploy Pongpamorn Julia Dahlmann Alexandra Haase Carolin Theresa Ebeling Sylvia Merkert Gudrun Göhring Nico Lachmann Andreas Martens Axel Haverich Ulrich Martin Ruth Olmer Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene Stem Cell Research |
| title | Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene |
| title_full | Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene |
| title_fullStr | Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene |
| title_full_unstemmed | Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene |
| title_short | Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene |
| title_sort | generation of three induced pluripotent stem cell lines mhhi012 a mhhi013 a mhhi014 a from a family with loeys dietz syndrome carrying a heterozygous p m253i c 759g a mutation in the tgfbr1 gene |
| url | http://www.sciencedirect.com/science/article/pii/S187350612030009X |
| work_keys_str_mv | AT praeploypongpamorn generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT juliadahlmann generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT alexandrahaase generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT carolintheresaebeling generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT sylviamerkert generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT gudrungohring generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT nicolachmann generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT andreasmartens generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT axelhaverich generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT ulrichmartin generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene AT rutholmer generationofthreeinducedpluripotentstemcelllinesmhhi012amhhi013amhhi014afromafamilywithloeysdietzsyndromecarryingaheterozygouspm253ic759gamutationinthetgfbr1gene |