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Article

Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation.

Stem cell research - 1 Apr 2017

Hu Kui, Li Jun, Zhu Kai, Chen Jinmiao, Liu Dingqian, Wang Yulin, Sun Yongxin, Lai Hao, Wang Chunsheng

Abstract excerpt

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). Analysis confirmed the cells had a normal...

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Source

Identifiers

PMID: 28395736
DOI: 10.1016/j.scr.2017.03.012

Genes

TGFBR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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