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

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.

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Publication Details

Journal
Stem Cell Research
Published
2026-04-01
DOI
https://doi.org/10.1016/j.scr.2026.103981
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
0.00

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

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

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article en

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.

Stem Cell ResearchVol. 94
Cardiovascular Institute of the South (US), Stanford Medicine (US), Center for Vascular Biology Research (US), Stanford University (US)
American Heart Association, National Institutes of Health
Zero hunger
Openalex Percentile: Top 31%
Connective tissue disorders research
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