2. Academic Validation
  3. Generation of human induced pluripotent stem cell line from peripheral blood of patient with lymphedema-distichiasis syndrome

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

  • Stem Cell Res. 2025 Mar 7:85:103693. doi: 10.1016/j.scr.2025.103693.
Marta Białobrzeska 1,  Jacek Stępniewski 1,  Alicja Martyniak 1,  Andrzej Szuba 2,  Józef Dulak 3
Affiliations

Affiliations

  • 1 Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.
  • 2 Department of Angiology and Internal Medicine, Faculty of Medicine, Medical University, Wrocław, Poland. Electronic address: andrzej.szuba@umw.edu.pl.
  • 3 Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland. Electronic address: jozef.dulak@uj.edu.pl.
PMID: 40073585 DOI: 10.1016/j.scr.2025.103693
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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