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. 2022 Dec 1;109(12):2126–2140. doi: 10.1016/j.ajhg.2022.10.014

Figure 2.

Figure 2

Transcriptome analysis reveals upregulation of type I IFN response upon chromosome gain

The GO category “Type I IFN mediated signaling pathway” was used to compare published datasets of primary trisomic chr. 21 DS lymphocytes, fibroblasts,41 and white blood cells,89 with engineered trisomic cell lines analyzed previously. Cell lines derived from RPE1 are: trisomy of chr. 5 and 12, clone 3 (Rtr5, 12_3), and trisomy chr. 21 clone 2 (Rtr21_2); cell lines derived from HCT116 are trisomy of chr. 3, clone 11 (Htr3_11) and tetrasomy chr. 5, clone 1 (Hte5_1), and clone 4 (Hte5_4) cell lines. All samples were normalized to the matching diploid controls.