从JAK3基因突变患者中产生iPSC系（CHSUi001-A）

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-30 DOI:10.1016/j.scr.2025.103822

Meng Gao , Na Li , Xingcui Wang

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引用次数: 0

摘要

本研究描述了一种诱导多能干细胞（iPSC）系的建立，该系来源于一名携带两种杂合JAK3基因突变的患者：c.1914G >； T和c.1048C >； T。iPSC是通过非整合外源载体介导的外周血单核细胞（PBMCs）重编程产生的，表达OCT4、SOX2、KLF4、BCL-XL和c-MYC。由此产生的iPSCs具有强大的多能性标记表达，在体外表现出三期分化潜力，并保持正常的核型。该iPSC系可作为阐明jak3相关免疫缺陷的分子机制和临床前药物筛选的宝贵资源。

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Generation of an iPSC line (CHSUi001-A) from a patient with JAK3 gene mutations

This study describes the establishment of an induced pluripotent stem cell (iPSC) line derived from a patient harboring two heterozygous JAK3 gene mutations: c.1914G > T and c.1048C > T. The iPSCs were generated via non-integrating episomal vector-mediated reprogramming of peripheral blood mononuclear cells (PBMCs), expressing OCT4, SOX2, KLF4, BCL-XL and c-MYC. The resulting iPSCs exhibited robust expression of pluripotency markers, demonstrated trilineage differentiation potential in vitro, and maintained a normal karyotype. This iPSC line serves as a valuable resource for elucidating the molecular mechanisms underlying JAK3-associated immunodeficiencies and for preclinical drug screening.

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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.