携带JAG1基因杂合突变的Alagille综合征患者诱导多能干细胞系的建立。

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-07-26 DOI:10.1016/j.scr.2025.103788

Bin Wang , Wei Song

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引用次数: 0

摘要

Alagille综合征（ALGS）是一种复杂罕见的遗传性疾病，涉及多个器官系统。我们利用携带JAG1基因杂合突变c.234C . > a （p.C78X）的1岁Alagille综合征男童外周血单个核细胞建立了诱导多能干细胞（iPSC）系。该iPSC系不含外源基因，表达多能性标记，具有分化潜力，核型正常，具有与患者相同的突变。该人类诱导多能干细胞系可用于体外疾病建模和治疗试验。

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Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene

Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a one-year-old boy with Alagille syndrome carrying a heterozygous mutation c.234C > A (p.C78X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, exhibited differentiation potential, have normal karyotype and harbored the same mutations found in the patient. This human induced pluripotent stem cell line can be used for in vitro disease modeling and therapy testing.

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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.