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Category: Project

Description: Human pluripotent stem cells (hPSC) are crucial in regenerative medicine, but their in vitro expansion can lead to genetic abnormalities, raising safety concerns for clinical use. This study analyzed ten human embryonic stem cell lines over multiple passages to investigate chromosomal abnormalities and single nucleotide variants (SNVs) in 380 cancer-related genes. It was found that 80% of the lines acquired chromosomal gains in 20q or 1q, known for enhancing in vitro growth, and 70% developed additional copy number variants (CNVs). Moreover, 122 SNVs were detected in 88 genes, with each line acquiring at least one new SNV during culture. Higher loads of CNVs and SNVs were observed at later passages, attributed to the cumulative mutation acquisition over time. Importantly, SNVs and rare CNVs followed chromosomal gains in 1q and 20q, suggesting these chromosomal abnormalities drive the acquisition of further mutations.