生成 XPA p.Arg228T 突变体 LUMCi004-A 细胞系以模拟 A 组色素性角化症

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-09-20 DOI:10.1016/j.scr.2024.103564

Halida P. Widyastuti , Babet van der Vaart , Spyridon T. Pachis , Christian Freund , Xavier Gidrol , Karine Raymond

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引用次数: 0

摘要

A 组色素沉着病（XPA）是一种遗传性皮肤病，其特征是对紫外线辐射敏感。在马格里布患者中，XPA 基因第 6 外显子（c.682C>T）的同基因突变导致引入一个过早终止密码子。利用 CRISPR/Cas9 介导的基因编辑技术，这一突变被导入了特性良好的 LUMCi004-A 株系。由此产生的 hiPSC 株系显示出典型的形态，表达出未分化状态的标记，能够在体外分化成三个生殖层，并显示出正常的核型。该品系与其同源品系配对后，成为建立该疾病模型的宝贵资源。

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Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A

Xeroderma pigmentosum group A (XPA) is an inherited skin disorder characterized by sensitivity to ultraviolet radiation. In Maghrebi patients, a homozygous mutation in exon 6 of the XPA gene (c.682C>T) results in the introduction of a premature termination codon. Using CRISPR/Cas9-mediated gene editing, this mutation was introduced into the well-characterized LUMCi004-A line. The resulting hiPSC line showed typical morphology, expressed markers of the undifferentiated state, was able to differentiate into the three germ layers in vitro and displayed a normal karyotype. When paired with its isogenic counterpart, this line represents a valuable resource to model the disease.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.