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.
Authors
- Amit Manhas (ORCID: https://orcid.org/0000-0001-6044-4576)
- Nazish Sayed (ORCID: https://orcid.org/0000-0002-8229-721X)
- Chikage Noishiki (ORCID: https://orcid.org/0000-0002-4623-1176)
- Karim Sallam (ORCID: https://orcid.org/0000-0003-3469-6571)
- Naima Turbes
- Dipti Tripathi (ORCID: https://orcid.org/0000-0001-7296-6654)
- Lu Liu
- David Wu
- Jason Sang Hun Lee
Institutions
- Cardiovascular Institute of the South (US)
- Stanford Medicine (US)
- Center for Vascular Biology Research (US)
- Stanford University (US)
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
Funders
- American Heart Association
- National Institutes of Health