Mutational burden of stem cells studied to improve disease models and therapies

Researchers from the University of California have characterized the mutational burden of human induced pluripotent stem cells (iPSCs), potentially improving researchers’ ability to prioritize stem cell lines for models of human disease and/or therapies.

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Human iPSCs, which have the potential to differentiate into any type of human body cell, are widely studied by researchers, but a full understanding of their mutational burden is lacking.

These stem cells are reprogrammed from bodily tissues, including skin cells that can acquire many non-inherited (somatic) mutations as a result of exposure the sun and UV light.

Although researchers have previously identified and characterized some somatic mutations in iPSCs, there is still not a full understanding of their mutational burden, even though more than 1,000 iPSC lines have been developed globally.

As reported in the journal Cell Reports, Kelly Frazer and colleagues have now identified and characterized somatic mutations in 18 iPSC lines derived from reprogrammed skin cells using whole-genome sequencing, transcriptome and epigenome data.

"Induced pluripotent stem cells represent a huge opportunity for science and medicine, but to truly and effectively use them we need to more completely understand their mutational burden. If we can detect somatic mutations for each iPSC line on an individual basis, we can use that information to prioritize iPSC lines for models of specific human diseases and/or transplantation therapies," says Frazer.

As well managing to further characterize two classes of somatic mutations, the team also found two new classes, one being mutations in the parental cell caused by UV damage and the other being subclonal mutations that were not in the parental cell, but arose during reprogramming.

Importantly, the team found that although most of the mutations occurred in epigenetic regions associated with closed chromatin and did not influence gene expression, the subclonal mutations that arose through reprogramming demonstrated a greater association with active chromatin and did alter gene expression.

Source:

Sally Robertson

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Sally Robertson

Sally has a Bachelor's Degree in Biomedical Sciences (B.Sc.). She is a specialist in reviewing and summarising the latest findings across all areas of medicine covered in major, high-impact, world-leading international medical journals, international press conferences and bulletins from governmental agencies and regulatory bodies. At News-Medical, Sally generates daily news features, life science articles and interview coverage.

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