从淋巴水肿-双行睫综合征患者外周血中生成人诱导多能干细胞系。
Generation of human induced pluripotent stem cell line from peripheral blood of patient with lymphedema-distichiasis syndrome.
作者信息
Białobrzeska Marta, Stępniewski Jacek, Martyniak Alicja, Szuba Andrzej, Dulak Józef
机构信息
Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.
Department of Angiology and Internal Medicine, Faculty of Medicine, Medical University, Wrocław, Poland.
出版信息
Stem Cell Res. 2025 Jun;85:103693. doi: 10.1016/j.scr.2025.103693. Epub 2025 Mar 7.
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.
淋巴水肿-双行睫综合征（LDS）是一种常染色体显性遗传疾病，与叉头框C2（FOXC2）基因突变有关，该基因对淋巴管内皮细胞（LEC）分化至关重要。LDS患者由于淋巴液过度积聚而出现肢体肿胀（淋巴水肿），其特征是存在额外一排睫毛（双行睫）。在此，我们从LDS患者来源的外周血单个核细胞（PBMC）中生成了人诱导多能干细胞（hiPSC）。LDS hiPSC系能够在体外模拟并研究LDS向LEC分化过程中的分子机制。
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