Work

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

Year: 2025

Type: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103693

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

Institutions: Jagiellonian University, University of Wrocław, Wroclaw Medical University

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360