来自携带TGFBR1异源突变的Loeys-Dietz综合征患者的两种诱导多能干细胞系的生成

IF 0.6 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2025-03-01 Epub Date: 2025-01-20 DOI:10.1016/j.scr.2025.103663
Renjie Shang , Junyi Sun , Amira G Flores Banuelos , Yang Zhou , David H. Liang , Joseph C. Wu
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引用次数: 0

摘要

Loeys-Dietz综合征(LDS)是一种罕见的常染色体显性结缔组织疾病,以血管动脉瘤、动脉夹层和明显的颅面和骨骼异常为特征。本研究的重点是产生和表征两种诱导多能干细胞(iPSC)系,这些系来自TGFBR1基因突变的LDS患者。结果表明,这两个iPSC细胞系具有典型的iPSC形态特征,多能性标记表达能力强,核型典型,具有向三胚层分化的能力。这些iPSC系为探索LDS的潜在机制提供了必要的模型,并具有推进个性化治疗方法的巨大潜力。
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Generation of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1
Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers. These iPSC lines provide essential models for exploring the underlying mechanisms of LDS and hold significant potential for advancing personalized treatment approaches.
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来源期刊
Stem cell research
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.
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