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Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.
Höpperger S, Spathopoulou A, Mayer-Suess L, Suarez-Cubero M, Sillaber K, Spreiz A, Kiechl S, Edenhofer F, Fellner L. Höpperger S, et al. Stem Cell Res. 2024 Mar;75:103321. doi: 10.1016/j.scr.2024.103321. Epub 2024 Jan 26. Stem Cell Res. 2024. PMID: 38301384 Free article.