IRMB, University of Montpellier, INSERM, Hôpital Saint-Eloi, 34295 Montpellier, France.
IRMB, University of Montpellier, INSERM, Hôpital Saint-Eloi, 34295 Montpellier, France; Institut de Biologie Computationnelle, 34095 Montpellier, France.
Stem Cell Reports. 2020 Jan 14;14(1):1-8. doi: 10.1016/j.stemcr.2019.12.004. Epub 2020 Jan 2.
Genomic integrity of human pluripotent stem cells (hPSCs) is essential for research and clinical applications. However, genetic abnormalities can accumulate during hPSC generation and routine culture and following gene editing. Their occurrence should be regularly monitored, but the current assays to assess hPSC genomic integrity are not fully suitable for such regular screening. To address this issue, we first carried out a large meta-analysis of all hPSC genetic abnormalities reported in more than 100 publications and identified 738 recurrent genetic abnormalities (i.e., overlapping abnormalities found in at least five distinct scientific publications). We then developed a test based on the droplet digital PCR technology that can potentially detect more than 90% of these hPSC recurrent genetic abnormalities in DNA extracted from culture supernatant samples. This test can be used to routinely screen genomic integrity in hPSCs.
人类多能干细胞（hPSCs）的基因组完整性对于研究和临床应用至关重要。然而，在 hPSC 生成、常规培养以及基因编辑后，遗传异常可能会累积。应定期监测其发生情况，但目前评估 hPSC 基因组完整性的检测方法并不完全适用于这种常规筛查。为了解决这个问题，我们首先对超过 100 篇文献中报道的所有 hPSC 遗传异常进行了大规模荟萃分析，确定了 738 个反复出现的遗传异常（即至少在五个不同科学出版物中发现的重叠异常）。然后，我们基于液滴数字 PCR 技术开发了一种检测方法，该方法可以检测到培养上清液样本中提取的 DNA 中超过 90%的 hPSC 反复出现的遗传异常。这种检测方法可用于常规筛查 hPSC 的基因组完整性。
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