Article

Uniquely high spontaneous mutational load in blood cells of XP-C patients

2025-07-19

Abstract excerpt

We discovered a uniquely high spontaneous somatic mutational load in peripheral blood mononuclear cells (PBMCs) of Xeroderma Pigmentosum group C (XP-C) patients, characterized by elevated single nucleotide variants associated with mutation signatures SBS8 and SBS32, as well as an enrichment of single-nucleotide cytosine deletions. This hypermutability was markedly lower in fibroblasts, suggesting a replication-dep...

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Literature Corpus work: 06826749-74be-56a2-8c96-b11c3a6dc312
DOI: 10.1101/2025.07.16.665113

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