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. 2024 Mar 10;16(4):870–884. doi: 10.1038/s44321-024-00048-8

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/zero/1.0/ applies to the data associated with this article, unless otherwise stated in a credit line to the data, but does not extend to the graphical or creative elements of illustrations, charts, or figures. This waiver removes legal barriers to the re-use and mining of research data. According to standard scholarly practice, it is recommended to provide appropriate citation and attribution whenever technically possible.

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(A) Visual of amputated leg of RDEB patient. Biopsy sites are shown as circles, from tumor, peri-tumor, and distal sites. (B) Graph of time to matrix detachment in RDEB fibroblasts from tumor (n = 9), peri-tumor (n = 9), and distal (n = 6) biopsy sites. Ordinary one-way ANOVA with Holm–Šídák test for significance. (C) Graph of log2 values of TGFβ1 mRNA from fibroblasts in distal (n = 3) and tumor (n = 3) biopsies. Welch’s t test for significance. (D) Western blot of collagen I and GAPDH in distal (n = 3), peri-tumor (n = 3), and tumor (n = 3) fibroblasts (left) and quantification of blot presented as graph showing collagen I expression relative to GAPDH. Ordinary one-way ANOVA with Šídák test for significance. (E) Western blot of collagen I and GAPDH in peri-tumor (n = 3) and tumor (n = 3) fibroblasts in isogenic patient sample sets 2 and 3 (left) and quantification of blot presented as graph of collagen I expression relative to GAPDH (right). Welch’s t test for significance. (F) qPCR result of COL1A1 mRNA presented as graph of fold change relative to GAPDH mRNA in peri-tumor (n = 3 biological replicates) and tumor (n = 3 biological replicates). Paired t test for significance. Data information: In (B–F), data are presented as mean $\pm$ SEM. *P ≤ 0.05, **P ≤ 0.01, ****P ≤ 0.0001. Source data are available online for this figure.