SERPINA1突变的α -1抗胰蛋白酶缺乏症（AATD）患者诱导多能干细胞（iPSC）系ERPLi004-A的产生

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-01-25 DOI:10.1016/j.scr.2025.103664

Harshini Surendran , Rajani Battu , Renjitha Gopurappilly , Chethala N. Vishnuprasad , Rajarshi Pal

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引用次数: 0

摘要

α -1抗胰蛋白酶缺乏症（AATD）是一种常染色体疾病，可引起肝脏和肺部疾病。纯合子突变的人群中有75%的人有发生肺气肿、慢性阻塞性肺疾病和肝硬化的风险。在这里，我们描述了从AATD患者身上分离的外周血单个核细胞（PBMC）使用非病毒和非整合的episal载体产生诱导多能干细胞（iPSC）系。iPSC细胞系表达多能性标记，在体外产生三个胚层，并保持正常核型（P20），可以为疾病建模、药物筛选和个性化医疗提供理想的工具。

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Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation

Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors. The iPSC line expresses pluripotency markers, generates three germ layers in vitro and retains a normal karyotype (P20) and can provide an ideal tool for disease modelling, drug screening, and personalized medicine.

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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.