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
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.N370...
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| Published in: | Stem cell research Vol. 59; p. 102651 |
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Elsevier B.V
01-03-2022
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| Abstract | 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. |
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| AbstractList | 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. |
| ArticleNumber | 102651 |
| Author | Pavlova, Sofia V. Rzaev, Jamil A. Drozdova, Elena S. Medvedev, Sergey P. Vyatkin, Yuri V. Zakian, Suren M. Grigor'eva, Elena V. Khabarova, Elena A. Sorogina, Diana A. Malakhova, Anastasia A. |
| Author_xml | – sequence: 1 givenname: Elena V. surname: Grigor'eva fullname: Grigor'eva, Elena V. email: evlena@bionet.nsc.ru organization: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia – sequence: 2 givenname: Elena S. surname: Drozdova fullname: Drozdova, Elena S. organization: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia – sequence: 3 givenname: Diana A. surname: Sorogina fullname: Sorogina, Diana A. organization: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia – sequence: 4 givenname: Anastasia A. surname: Malakhova fullname: Malakhova, Anastasia A. organization: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia – sequence: 5 givenname: Sofia V. surname: Pavlova fullname: Pavlova, Sofia V. organization: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia – sequence: 6 givenname: Yuri V. surname: Vyatkin fullname: Vyatkin, Yuri V. organization: Novosibirsk State University, Novosibirsk, Russia – sequence: 7 givenname: Elena A. surname: Khabarova fullname: Khabarova, Elena A. organization: FSBI Federal Neurosurgical Center, Novosibirsk, Russia – sequence: 8 givenname: Jamil A. surname: Rzaev fullname: Rzaev, Jamil A. organization: FSBI Federal Neurosurgical Center, Novosibirsk, Russia – sequence: 9 givenname: Sergey P. surname: Medvedev fullname: Medvedev, Sergey P. organization: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia – sequence: 10 givenname: Suren M. surname: Zakian fullname: Zakian, Suren M. organization: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia |
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| Cites_doi | 10.1056/NEJMsr040330 10.1007/s10616-020-00406-7 10.1006/mcpr.1998.0186 10.1002/ana.23614 10.1002/stem.1293 |
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| References | Okita, Yamakawa, Matsumura, Sato, Amano, Watanabe, Goshima, Yamanaka (b0020) 2013; 31 Gegg, Burke, Heales, Cooper, Hardy, Wood, Schapira (b0010) 2012; 72 Choppa, Vojdani, Tagle, Andrin, Magtoto (b0005) 1998; 12 Grigor’eva, Malankhanova, Surumbayeva, Pavlova, Minina, Kizilova, Suldina, Morozova, Kiseleva, Sorokoumov, Lebedev, Zakian, Malakhova (b0015) 2020; 72 Cowan, Klimanskaya, McMahon, Atienza, Witmyer, Zucker, Wang, Morton, McMahon, Powers, Melton (bib21) 2004; 350 Gegg (10.1016/j.scr.2021.102651_b0010) 2012; 72 Choppa (10.1016/j.scr.2021.102651_b0005) 1998; 12 Grigor’eva (10.1016/j.scr.2021.102651_b0015) 2020; 72 Cowan (10.1016/j.scr.2021.102651_bib21) 2004; 350 Okita (10.1016/j.scr.2021.102651_b0020) 2013; 31 |
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