Article
Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations.
EMBO molecular medicine - 7 Oct 2020
Liang Kristina Xiao, Kristiansen Cecilie Katrin, Mostafavi Sepideh, Vatne Guro Helén, Zantingh Gina Alien, Kianian Atefeh, Tzoulis Charalampos, Høyland Lena Elise, Ziegler Mathias, Perez Roberto Megias, Furriol Jessica, Zhang Zhuoyuan, Balafkan Novin, Hong Yu, Siller Richard, Sullivan Gareth John, Bindoff Laurence A
Abstract excerpt
Mutations in POLG disrupt mtDNA replication and cause devastating diseases often with neurological phenotypes. Defining disease mechanisms has been hampered by limited access to human tissues, particularly neurons. Using patient cells carrying POLG mutations, we generated iPSCs and then neural stem cells. These neural precursors manifested a phenotype that faithfully replicated the molecular and biochemical...
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