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Article

Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1.

Stem cell research - 1 Oct 2022

Jiao Kexin, Yue Dongyue, Gu Xinyu, Cheng Nachuan, Chang Xuechun, Zhong Huahua, Huan Xiao, Su Manqiqige, Zhou Yufan, Luo Sushan, Zhao Chongbo, Xi Jianying, Zhu Wenhua

Abstract excerpt

Oculopharyngodistal myopathy (OPDM) is a late-onset degenerative muscle disorder characterized by ptosis and weakening of the facial, pharyngeal, and distal limb muscles. Our study reprogrammed human-induced pluripotent stem cells (iPSC) from the peripheral blood mononuclear cells (PBMCs) of a patient with a CGG repeat expansion in the 5'UTR of GIPC1 gene that co-segregated with the disease. The generated iPSCs...

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Identifiers

PMID: 36055118
DOI: 10.1016/j.scr.2022.102897

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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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