Generation of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1

Abstract

Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers. These iPSC lines provide essential models for exploring the underlying mechanisms of LDS and hold significant potential for advancing personalized treatment approaches.

Keywords

• iPSC
• Stem cells
• Pluripotency
• Loeys-Dietz syndrome
• TGFBR1