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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Publication Details

Journal
Stem Cell Research
Published
2025-03-06
DOI
https://doi.org/10.1016/j.scr.2025.103693
Citations
1
Primary Topic
Optimism, Hope, and Well-being
Type
article
Field-Weighted Citation Impact
1.54

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article

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

Jacek Stępniewski, Alicja Martyniak, Andrzej Szuba, Marta Białobrzeska
1 citations
Stem Cell Research
Optimism, Hope, and Well-being
1.54
article

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

Jacek Stępniewski, Alicja Martyniak, Andrzej Szuba, Marta Białobrzeska
article en
1 citations

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.

Stem Cell ResearchVol. 85
Jagiellonian University (PL), Medical University of Silesia (PL)
Uniwersytet Medyczny im. Piastów Slaskich we Wroclawiu
Openalex Percentile: Top 19%
Optimism, Hope, and Well-being
1.54
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