来自女性患者携带WDR45非规范剪接位点c.827 + 1G > a的多能干细胞系CIPi005-A的产生和特性

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-15 DOI:10.1016/j.scr.2025.103686

Jie Fang , Yanyan Gao , Yunzhe Kang , Yin Li , Qian Chen , Jiayu Chen , Peipei Zhang

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引用次数: 0

摘要

β-螺旋桨蛋白相关神经变性（BPAN）是一种罕见的神经退行性疾病，伴有发育迟缓、癫痫和锥体外系症状，与WDR45基因突变相关。在这篇文章中，我们从一个携带剪接位点突变c.827 + 1G >的3岁女孩的外周血单个核细胞（PBMCs）中生成了一个iPSC系；A在WDR45。所获得的iPSC多能性基因表达量高，核型正常，胚状体分化能力强。

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Generation and characterization of a pluripotent stem cell line CIPi005-A derived from a female patient carrying non-canonical splice site c.827 + 1G > A in WDR45

β-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease with developmental retardation, epilepsy and extrapyramidal symptoms, associated with mutations in WDR45. In this article, we generated an iPSC line from peripheral blood mononuclear cells (PBMCs) of a 3-year-old girl who carries a splice site mutation c.827 + 1G > A in WDR45. The generated iPSC exhibited high expression of pluripotency genes, a normal karyotype, good ability of embryoid bodies differentiation.

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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.