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. 2025 Jun:85:103693.
doi: 10.1016/j.scr.2025.103693. Epub 2025 Mar 7.

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

Marta Białobrzeska  1 , Jacek Stępniewski  1 , Alicja Martyniak  1 , Andrzej Szuba  2 , Józef Dulak  3
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Free article

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

Marta Białobrzeska et al. Stem Cell Res. 2025 Jun.
Free article

Abstract

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.

Keywords: FOXC2; Forkhead box C2; Lymphatic endothelial cells; Lymphedema-distichiasis syndrome; hiPSCs.

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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