Stem Cell Research (Aug 2023)

Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva

  • Ekaterina Kondrateva,
  • Olga Grigorieva,
  • Elizaveta Kurshakova,
  • Irina Panchuk,
  • Victoria Pozhitnova,
  • Ekaterina Voronina,
  • Vyacheslav Tabakov,
  • Maria Orlova,
  • Alexander Lavrov,
  • Svetlana Smirnikhina,
  • Sergey Kutsev

Journal volume & issue
Vol. 70
p. 103133

Abstract

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Urine cells obtained from a 14-year-old man with genetically proven (ACVR1: c.6176G > A) and clinically manifested fibrodysplasia ossificans progressiva were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors such as OCT3/4, SOX2, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, exhibited the potential to differentiate into three germ layers in spontaneous differentiation assay and had a normal karyotype. The iPSC line may provide a model for development of a personalized treatment including genome editing and drug screening, may be used for disease modelling, cell differentiation and pharmacological investigations..