Valeria Fernandez Vallone, Kristin Fischer, Judit Küchler, Franziska Diekmann, Georg Hansmann, Harald Stachelscheid
Berlin Institute of Health at Charité – Universitätsmedizin Berlin. Hannover Medical School. Children’s Hospital, General Hospital Vienna, Medical University of Vienna. European Pediatric Pulmonary Vascular Disease Network.
Germany and Austria
Stem Cell Research
Stem Cell Res 2025;
DOI: 10.1016/j.scr.2025.103886
Abstract
Heritable pulmonary arterial hypertension (HPAH) and underlying pulmonary vascular disease (PVD) are often caused by TBX4 mutations-either loss- or gain-of-function-which are a leading cause of childhood-onset PAH. The clinically heterogeneous TBX4 syndrome can include skeletal anomalies (e.g., small patella syndrome) and developmental lung disease (DEVLD) (Galambos, 2019). TBX4 is expressed in lung mesenchymal cells such as matrix fibroblasts, pericytes, and smooth muscle cells, all contributing to PAH pathogenesis (Karolak, 2023 and Maldonado, 2025). Our five patient-derived TBX4-mutant hiPSC lines provide a powerful model to investigate cell-specific mechanisms in HPAH/DEVLD-PH and support precision drug discovery and therapy development targeting TBX4-related abnormalities.
Category
Class I. Heritable Pulmonary Hypertension
Vascular Cell Biology and Mechanisms of Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes