Generation of an induced pluripotent stem cell line from a patient with Loeys-Dietz syndrome
Summary
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder caused by pathogenic variants in genes involved in the TGF-β signaling pathway. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) of an LDS patient carrying a heterozygous TGFBR1 mutation (c.679G > A, p.Glu227Lys). The iPSC line exhibits normal morphology, expresses pluripotency markers, maintains chromosomal integrity, and demonstrates trilineage differentiation capacity. This patient-specific iPSC line provides a valuable platform for modeling LDS pathogenesis and investigating vascular disease mechanisms. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Liu L, Manhas A, Noishiki C, Wu D, Tripathi D, Turbes N, Sallam K, Lee JT, Sayed N |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Aug;94:103981 |
| PubMed | 41946258 |
| PubMed Central | PMC13344682 |
| DOI | 10.1016/j.scr.2026.103981 |