Literature DB >> 27345795

Generation of a human iPSC line from a patient with a defect of intergenomic communication.

Francisco Zurita1, Teresa Galera1, Cristina González-Páramos1, Ana Moreno-Izquierdo2, Peter Schneiderat3, Mario F Fraga4, Agustin F Fernández5, Rafael Garesse1, M Esther Gallardo6.   

Abstract

Human iPSC line PG64SV.2 was generated from fibroblasts of a patient with a defect of intergenomic communication. This patient harbored a homozygous mutation (c.2243G>C; p.Trp748Ser) in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma gene (POLG). Reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered using a non integrative methodology that involves the use of Sendai virus.
Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2015        PMID: 27345795     DOI: 10.1016/j.scr.2015.12.016

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  1 in total

1.  Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations.

Authors:  Kristina Xiao Liang; Cecilie Katrin Kristiansen; Sepideh Mostafavi; Guro Helén Vatne; Gina Alien Zantingh; Atefeh Kianian; Charalampos Tzoulis; Lena Elise Høyland; Mathias Ziegler; Roberto Megias Perez; Jessica Furriol; Zhuoyuan Zhang; Novin Balafkan; Yu Hong; Richard Siller; Gareth John Sullivan; Laurence A Bindoff
Journal:  EMBO Mol Med       Date:  2020-08-25       Impact factor: 12.137

  1 in total

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