Stem Cell Research (Mar 2022)

Generation of induced pluripotent stem cell line, ICGi034-A, by reprogramming peripheral blood mononuclear cells from a patient with Parkinson’s disease associated with GBA mutation

  • Elena V. Grigor'eva,
  • Elena S. Drozdova,
  • Diana A. Sorogina,
  • Anastasia A. Malakhova,
  • Sofia V. Pavlova,
  • Yuri V. Vyatkin,
  • Elena A. Khabarova,
  • Jamil A. Rzaev,
  • Sergey P. Medvedev,
  • Suren M. Zakian

Journal volume & issue
Vol. 59
p. 102651

Abstract

Read online

Mutation in the glucocerebrosidase encoding gene (GBA) is one of the most frequent genetic cause of Parkinson's disease. ICGi034-A induced pluripotent stem cell (iPSC) line obtained by reprogramming peripheral blood mononuclear cells (PBMCs) of a patient with heterozygous c.1226A > G (p.N370S) mutation in the GBA gene can be used for studying the fundamental mechanisms of the pathogenesis of GBA-associated Parkinson's disease, and for potential drug screening. The iPSCs express pluripotency markers (NANOG, SSEA4, TRA-1-60, OCT4, SOX2), have a normal karyotype, and are capable of producing derivatives of three germ layers.