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Science & Technology

Human Stem Cell Resources to infer Neandertal DNA traits

By 9th November 2020No Comments

The following study was conducted by Scientists from Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany; Institute of Genomics, University of Tartu, Tartu, Estonia; Department of Biosystems Science and Engineering, ETH Zu¨rich, Basel, Switzerland; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland. Study is published in Stem Cell Reports Journal – Cell Press Publishing as detailed below.

Stem Cell Reports Journal – Cell Press Publishing (2020)

Human Stem Cell Resources Are an Inroad to Neandertal DNA Functions


  • Large human induced pluripotent stem cell resources harbor extensive Neandertal DNA
  • A database of Neandertal DNA content and functionally relevant alleles in each cell line
  • Organoid systems allow exploration into the developmental effects of Neandertal DNA
  • Single-cell transcriptomics tracks Neandertal DNA activity over cell differentiation


Induced pluripotent stem cells (iPSCs) from diverse humans offer the potential to study human functional variation in controlled culture environments. A portion of this variation originates from an ancient admixture between modern humans and Neandertals, which introduced alleles that left a phenotypic legacy on individual humans today. Here, we show that a large iPSC repository harbors extensive Neandertal DNA, including alleles that contribute to human phenotypes and diseases, encode hundreds of amino acid changes, and alter gene expression in specific tissues. We provide a database of the inferred introgressed Neandertal alleles for each individual iPSC line, together with the annotation of the predicted functional variants. We also show that transcriptomic data from organoids generated from iPSCs can be used to track Neandertal-derived RNA over developmental processes. Human iPSC resources provide an opportunity to experimentally explore Neandertal DNA function and its contribution to present-day phenotypes, and potentially study Neandertal traits.


Stem Cell Reports Journal – Cell Press Publishing



Dannemann, M., Z. He, et al. (2020). “Human Stem Cell Resources Are an Inroad to Neandertal DNA Functions.” Stem Cell Reports 15(1): 214-225.