从携带c.2333G > T和c.2621C > T突变的威尔逊氏病患者身上产生的诱导多能干细胞系

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-07-11 DOI:10.1016/j.scr.2025.103773

Danni Zhou , Jun Su , Jue Wang , Hao Wang , Lin Zhang , Fengquan Zhou , Lin Zhou , Shusen Zheng , Tingyu Gong , Ping Liang

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引用次数: 0

摘要

威尔逊氏病（WD）是一种常染色体隐性遗传病，由编码ATP7B蛋白（铜离子转运体atp酶β肽）的ATP7B基因突变引起。ATP7B蛋白功能损伤引起肝细胞内铜转运障碍，最终导致铜的异常积聚和病理表现。在这项研究中，从WD患者获得的人肾上皮细胞被非整合的仙台病毒重编程，以产生患者特异性诱导多能干细胞（iPSC）系。该iPSC细胞系表达多能性标记，核型和形态正常，能够分化为3种胚层。

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Generation of an induced pluripotent stem cell line from a Wilson’s disease patient carrying both c.2333G > T and c.2621C > T mutations

Wilson’s disease (WD) is an autosomal recessive genetic disorder caused by the mutation of ATP7B gene encoding ATP7B protein (copper ion transporter ATPase β peptide). Functional impairments of ATP7B protein cause copper transport disorders in liver cells, eventually resulting in abnormal accumulation of copper and pathological manifestations. In this study, human renal epithelial cells obtained from a patient with WD were reprogrammed by a non-integrated Sendai virus to generate a patient-specific induced pluripotent stem cell (iPSC) line. The iPSC line expressed pluripotency markers, showed normal karyotype and morphology, and was capable to differentiate into three germ layers.

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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.