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. 2020 Jul 31;10:12991. doi: 10.1038/s41598-020-69822-1

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© The Author(s) 2020

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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Characterizing somatic mutations in single fetal haematopoietic stem and progenitor cells (HSPCs) and fetal intestinal stem cells (ISCs). (a) Experimental strategy for characterizing somatic mutations in single cells of disomy 21 (D21) and trisomy (T21) fetuses. HSPCs and ISC were clonally expanded to obtain sufficient DNA for whole-genome sequencing (WGS). DNA from bulk skin or intestine was used as a reference to control for germline variants. After characterizing the somatic mutations in single cells, the somatic mutation load between D21 and T21 fetal cells was compared. In addition, signature analysis and phylogenetic lineage tree analyses were performed.