ArticleStem cell research2024
Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene.
Article in Stem cell research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Generation of an induced pluripotent stem cell line from a patient with Loeys-Dietz syndrome.Stem cell research · 2026Article
- Generation of an induced pluripotent stem cell line from a patient with Varicose veins.Stem cell research · 2025Article
- Generation of induced pluripotent stem cell line from a patient with long COVID.Stem cell research · 2025Article
- Human-based complexFrontiers in cell and developmental biology · 2025Review
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Authors and funding
9 authors.
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Abstract
Vascular Ehlers-Danlos Syndrome (vEDS) is an inherited connective tissue disorder caused by COL3A1 gene, mutations that encodes type III collagen, a crucial component of blood vessels. vEDS can be life-threatening as these patients can have severe internal bleeding due to arterial rupture. Here, we generated induced pluripotent stem cell (iPSC) lines from two vEDS patients carrying a missense mutation in the COL3A1 (c.226A > G, p.Asn76Asp) gene. These lines exhibited typical iPSC characteristics including morphology, expression of pluripotency markers, and could differentiate to all three germ layer. These iPSC lines can serve as valuable tools for elucidating the pathophysiology underlying vEDS.
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