由POMC:W84X突变引起的POMC缺乏症肥胖患者的人诱导多能干细胞系的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-22 DOI:10.1016/j.scr.2025.103814

Katarzyna A. Ludwik , Regina Jahn , Sabine Jyrch , Lara Lechner , Valeria Fernandez Valone , Peter Kühnen , Harald Stachelscheid

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引用次数: 0

摘要

我们从一名由POMC基因（W84X）纯合子截断突变引起的严重早发性肥胖患者的真皮成纤维细胞中产生了人诱导多能干细胞（iPSC）系bihi251 - a。使用表达关键多能因子的非整合rna载体进行重编程。由此产生的iPSC细胞系表现出典型的形态，表达未分化细胞的标记，保持正常的核型，并显示出向所有三种胚层细胞类型分化的能力。BIHi261-A为研究pomc相关肥胖的分子机制和制定潜在的治疗策略提供了有价值的工具。

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Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation

We generated the human induced pluripotent stem cell (iPSC) line BIHi261-A from dermal fibroblasts of a patient with severe early-onset obesity caused by a homozygous truncating mutation in the POMC gene (W84X). Reprogramming was performed using a non-integrating, RNA-based vector expressing key pluripotency factors. The resulting iPSC line exhibited typical morphology, expressed markers of undifferentiated cells, maintained a normal karyotype, and demonstrated the capacity to differentiate into cell types of all three germ layers. BIHi261-A provides a valuable tool for studying the molecular mechanisms of POMC-related obesity and for developing potential therapeutic strategies.

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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.