Stem Cell Research (Oct 2017)

Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene

  • Aleksandr Khudiakov,
  • Daria Kostina,
  • Anna Zlotina,
  • Tatiana Nikulina,
  • Alexey Sergushichev,
  • Alexandra Gudkova,
  • Alexey Tomilin,
  • Anna Malashicheva,
  • Anna Kostareva

DOI
https://doi.org/10.1016/j.scr.2017.08.015
Journal volume & issue
Vol. 24, no. C
pp. 77 – 80

Abstract

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Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying desmin (DES) gene heterozygous splice site mutation using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. iPSCs were characterized by sequencing, karyotype analysis, STR analysis, immunocytochemistry, RT-PCR and teratoma formation.