% pubman genre = article @article{item_3238527, title = {{Human stem cell resources are an inroad to Neandertal DNA functions}}, author = {Dannemann, Michael and He, Zhisong and Heide, Christian and Vernot, Benjamin and Sidow, Leila and Kanton, Sabina and Weigert, Anne and Treutlein, Barbara and P{\"a}{\"a}bo, Svante and Kelso, Janet and Camp, J. Gray}, language = {eng}, issn = {2213-6711}, doi = {10.1016/j.stemcr.2020.05.018}, publisher = {Cell Press}, address = {Cambridge, Massachusetts}, year = {2020}, date = {2020-06-18}, abstract = {{Induced pluripotent stem cells (iPSCs) from diverse humans offer the potential to study{\textless}br{\textgreater}human functional variation in controlled culture environments. A portion of this variation{\textless}br{\textgreater}originates from ancient admixture between modern humans and Neandertals, which{\textless}br{\textgreater}introduced alleles that left a phenotypic legacy on individual humans today. Here we{\textless}br{\textgreater}show that a large iPSC repository harbors extensive Neandertal DNA, including alleles{\textless}br{\textgreater}that contribute to human phenotypes and diseases, encode hundreds of amino acid{\textless}br{\textgreater}changes, and alter gene expression in specific tissues. We provide a database of the{\textless}br{\textgreater}inferred introgressed Neandertal alleles for each individual iPSC line, together with the{\textless}br{\textgreater}annotation of the predicted functional variants. We also show that transcriptomic data{\textless}br{\textgreater}from organoids generated from iPSCs can be used to track Neandertal-derived RNA{\textless}br{\textgreater}over developmental processes. Human iPSC resources provide an opportunity to{\textless}br{\textgreater}experimentally explore Neandertal DNA function and its contribution to present-day{\textless}br{\textgreater}phenotypes, and potentially study Neandertal traits.}}, journal = {{Stem Cell Reports}}, volume = {15}, pages = {214--225}, }