Generation of an induced pluripotent stem cell line from a patient with Loeys–Dietz syndrome

Stem Cell Research 2026 Open access

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Authors: Lu Liu, Amit H Manhas, Chikage Noishiki, David Wu, Dipti Tripathi, Naima Turbes, Karim Sallam, Jason Sang Hun Lee, Nazish Sayed
DOI: 10.1016/j.scr.2026.103981
Cited by: 1
References: 10

Abstract

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.

Fields of Study & Subjects

Connective tissue disorders research Genetic Syndromes and Imprinting Folate and B Vitamins Research

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
94
Pages
103981–103981
Publication date
1 April 2026
Language
EN