Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-07-28 DOI:10.1016/j.scr.2025.103792

Gabriele Trentini , Giulia Cazzanelli , Marina Cardano , Orazio Palumbo , Mario Benvenuto , Pietro Palumbo , Francesca Agriesti , Claudia Piccoli , Luciano Conti , DEFEAT-LD Study Group , Massimo Carella , Graziano Lolli , Giuseppe d’Orsi

引用次数: 0

Abstract

An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 24-year-old male patient affected by Lafora disease. The patient is homozygous for the c.721C>T, p.(Arg241*) nonsense variant in the EPM2A gene, which codes for the laforin protein. The generated iPSC line possesses a normal karyotype, expresses pluripotency markers, and can differentiate into derivatives of the three germ layers. It is configured as a useful tool for both disease modeling and therapy development.

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人类诱导多能干细胞系（cibio007 - a）的生成

从24岁男性拉福拉病患者外周血单个核细胞（PBMCs）中获得诱导多能干细胞（iPSC）系。该患者是编码肾上腺素蛋白的EPM2A基因c.721C>；T, p.（Arg241*）无义变体的纯合子。所生成的iPSC系具有正常的核型，表达多能性标记，并能分化为三种胚层的衍生物。它被配置为疾病建模和治疗开发的有用工具。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.