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GENE EXPRESSION

Stem cells root out genetic variants

Nature Reviews Genetics volume 22, page 265 (2021)Cite this article

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Heterogeneity between induced pluripotent stem cell (iPSC) lines and the lack of genomic resources for iPSCs have limited their use for studying genetic variants in the context of development and disease. Now, two studies published together in Nature Genetics describe novel approaches for uncovering disease-related genetic variants using iPSCs and derived models.

In the first study, led by researchers at the European Molecular Biology Laboratory (EMBL) and the Wellcome Sanger Institute, Jerber et al. differentiated 215 iPSC lines to a midbrain cell fate and performed single-cell RNA sequencing (scRNA-seq) at time points corresponding to different developmental stages. Clustering of the dataset and cell-type annotation using marker genes identified 12 distinct cell types throughout differentiation, including midbrain dopaminergic neuron (DA) and serotonergic-like neuron (sert) populations at late time points.

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References

Original article

  • Jerber, J. et al. Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation. Nat. Genet. 53, 304–312 (2021)

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  • Bonder, M. J. et al. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat. Genet. 53, 313–321 (2021)

    Article  CAS  Google Scholar 

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  1. Nature Reviews Genetics http://www.nature.com/nrg/

    Joseph Willson

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  1. Joseph Willson
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Correspondence to Joseph Willson.

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Willson, J. Stem cells root out genetic variants. Nat Rev Genet 22, 265 (2021). https://doi.org/10.1038/s41576-021-00357-5

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