Uncovering low-level mosaicism in human embryonic stem cells using high throughput single cell shallow sequencing.

ABSTRACT: Human pluripotent stem cells (hPSCs) have significant levels of low-grade genetic mosaicism, which commonly used techniques fail to detect in bulk DNA. These copy number variations remain a hurdle for the clinical translation of hPSC, as their effect in vivo ranges from unknown to dangerous, and the ability to detect them will be necessary as the field advances. As such there is need for techniques which can efficiently analyse genetic content in single cells with higher throughput and lower costs. We report here on the use of the Fluidigm C1 single cell WGA platform in combination with shallow whole genome sequencing to analyse the genetic content of single hPSCs. From a hPSC line carrying an isochromosome 20, 56 single cells were analysed and found to carry a total of 50 aberrations, acr

SUBMITTER: Keller A 

PROVIDER: S-EPMC6796059 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature