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Updated: Jun 12, 2025

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产生XPA p.Arg228T突变LUMCi004-A细胞系用于建模Xeroderma pigmentosumA组A细胞系

Halida P Widyastuti1, Babet van der Vaart2, Spyridon T Pachis1

  • 1Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, Netherlands; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Leiden, Netherlands.

Stem cell research
|September 25, 2024
PubMed
概括

色素菌A组 (XPA) 是一种导致紫外线敏感性的遗传疾病. 研究人员为疾病研究创建了一种新的人类诱导多能干细胞系,模拟这种XPA突变.

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DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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