Generation of induced pluripotent stem cell lines from patients with thoracic aortic aneurysm carrying the ACTA2 gene mutation

Abstract

Thoracic aortic aneurysms (TAA) are abnormal dilations of the aorta above the diaphragm. Mutations in the ACTA2 gene are among the most common genetic causes of TAA. Induced pluripotent stem cells (iPSCs) provide a platform for comprehensive biological investigations and the development of tailored medical strategies for this condition. Here, two iPSC lines were generated from TAA patients harboring the ACTA2 mutation, c.773 G > A. Both iPSC lines demonstrated characteristic pluripotent stem cell morphology, expressed core pluripotency markers, maintained normal karyotypes, and possessed the capacity for trilineage differentiation. These cell lines represent a valuable resource for studying the genetic and cellular mechanisms underlying TAA pathogenesis associated with ACTA2 mutations.