由严重型亨特综合征患者产生的人诱导多能干细胞（PNUSCRi005-A）携带人2-硫酸酯酶基因外显子缺失（外显子4-7 del）。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-12-31 DOI:10.1016/j.scr.2024.103639

Nayeon Lee, Haneul Noh, Chong Kun Cheon

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引用次数: 0

摘要

粘多糖病Ⅱ型，又称Hunter综合征，是一种罕见的由iduronate-2-sulfatase （IDS）基因突变引起的x样遗传病。我们从一名严重亨特综合征患者的外周血单核细胞（PBMCs）中获得了IDS基因c.418 + 495_1006 + 1304缺失。我们使用非整合的仙台病毒从患者的pmcs中生成了诱导多能干细胞（iPSC）系（PNUSCRi005-A hiPSCs）。hiPSCs具有胚胎干细胞样特征，分化为三胚层，核型正常。

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Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4-7 del) in in human iduronate 2-sulfatase gene.

Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene. We obtained peripheral blood mononuclear cells (PBMCs) from a patient with a severe type of Hunter syndrome carrying c.418 + 495_1006 + 1304 deletion in the IDS gene. We generated an induced pluripotent stem cell (iPSC) line (PNUSCRi005-A hiPSCs) from the PBMCs of the patient using non-integrative Sendai virus. The hiPSCs exhibited embryonic stem cell-like characteristics, showed differentiation properties into three germ layers, and had a normal karyotype.

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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.