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

Результат исследования: Научные публикации в периодических изданияхстатьярецензирование

Аннотация

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.

Язык оригиналаанглийский
Номер статьи102651
ЖурналStem Cell Research
Том59
Ранняя дата в режиме онлайн31 дек. 2021
DOI
СостояниеОпубликовано - мар. 2022

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