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
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-03-01 |
Deskripsi
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.