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Article

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

Stem cell research - 1 Aug 2026

Liu Lu, Manhas Amit, Noishiki Chikage, Wu David, Tripathi Dipti, Turbes Naima, Sallam Karim, Lee Jason T, Sayed Nazish

Abstract excerpt

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...

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Identifiers

PMID: 41946258
DOI: 10.1016/j.scr.2026.103981
PMCID: PMC13344682

Genes

TGFBR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Generation of an induced pluripotent stem cell line from a patient with Loeys-Dietz syndrome.PMID 41946258Read ↗

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