Article
Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip.
Stem cell reports - 12 Jul 2022
Orlova Valeria V, Nahon Dennis M, Cochrane Amy, Cao Xu, Freund Christian, van den Hil Francijna, Westermann Cornelius J J, Snijder Repke J, Ploos van Amstel Johannes Kristian, Ten Dijke Peter, Lebrin Franck, Mager Hans-Jurgen, Mummery Christine L
Abstract excerpt
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease characterized by weak blood vessels. HHT1 is caused by mutations in the ENDOGLIN (ENG) gene. Here, we generated induced pluripotent stem cells (hiPSCs) from a patient with rare mosaic HHT1 with tissues containing both mutant (ENGc.1678C>T) and normal cells, enabling derivation of isogenic diseased and healthy hiPSCs, respectively. We showed reduced...
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