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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. Among authors: sillaber k. 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.
[Scaling skin in infancy].
Authried G, Weber CM, Sillaber K, Svendsen MT, Kulnig J. Authried G, et al. Among authors: sillaber k. Dermatologie (Heidelb). 2023 Nov;74(11):885-888. doi: 10.1007/s00105-023-05214-6. Epub 2023 Aug 18. Dermatologie (Heidelb). 2023. PMID: 37596463 German.