从淋巴水肿-双支气管炎综合征患者外周血制备人诱导多能干细胞

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-03-07 DOI:10.1016/j.scr.2025.103693

Marta Białobrzeska , Jacek Stępniewski , Alicja Martyniak , Andrzej Szuba , Józef Dulak

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引用次数: 0

摘要

淋巴水肿-双管病综合征（LDS）是一种常染色体显性遗传病，与叉头盒C2 （FOXC2）基因突变有关，该基因对淋巴内皮细胞（LEC）分化至关重要。LDS患者由于淋巴过度积聚而导致四肢肿胀（淋巴水肿），其特征是存在额外的睫毛排（双睫）。在这里，我们从LDS患者来源的外周血单个核细胞（PBMCs）中生成了人诱导多能干细胞（hiPSCs）。LDS hiPSC细胞系允许体外建模和研究LDS向LEC分化的分子机制。

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Generation of human induced pluripotent stem cell line from peripheral blood of patient with lymphedema-distichiasis syndrome

Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant genetic disorder associated with mutations in forkhead box C2 (FOXC2) gene, critical for lymphatic endothelial cell (LEC) differentiation. LDS patients suffer from swelling of limbs (lymphedema) due to excessive lymph accumulation and are characterized by the presence of additional row of eyelashes (distichiasis). Here, we generated human induced pluripotent stem cells (hiPSCs) from LDS patient-derived peripheral blood mononuclear cells (PBMCs). LDS hiPSC line allows in vitro modeling and investigation of the molecular mechanisms of LDS upon differentiation towards LEC.

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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.