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Fig. 2 | Stem Cell Research & Therapy

Fig. 2

From: Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum

Fig. 2

Mutational signatures of cell lines with or without DNA repair deficiency. There are 96 possible mutation types in total when trinucleotides in which the single-nucleotide mutation is situated in the center are considered. Vertical axes indicate the number of single-nucleotide mutations per cell line. Compared to cell lines deficient in repair of double-strand break and control cells, those deficient in nucleotide excision repair showed larger numbers of single-nucleotide mutation. Dipyrimidine spikes were only conspicuous in the XPA-deficient cells. a XPAiPS-O1 iPSCs and their parental XP3OS cells with the XPA mutations. b XP40OS iPSCs and their parental XP40OS cells with the ERCC2 mutations. c XPAiPS-E3 iPSCs and their parental XPEMB-1 cells with the XPA mutations. d AT-iPSCs (AT1OS-iPS_262, AT1OS-iPS_263, AT1OS-iPS_264, and AT1OS-iPS_024) and their parental AT1OS cells with the ATM mutations. e Edom-iPS-1, Edom-iPS-2, and Edom-iPS-3 iPSCs (Nishino et al. 2014) and their parental Edom22 cells from a healthy donor

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