Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from Parkinson’s Disease Patient with c.1000G>A Mutation in LRRK2 Gene

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Аннотация

The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease development pathology. We have analyzed clinical exome of a Parkinson’s disease patient and identified single-nucleotide variations in the LRRK2 (c.1000G>A, c.2167A>G) and PINK1 (c.1562A>C) genes. The LRRK2:c.1000G>A mutation has uncertain clinical significance, and is interesting for further investigation. We generated induced pluripotent stem cells (IPSCs) from PBMCs of the patient by a non-integrating episomal vectors. IPSCs demonstrate typical morphology and normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60), and are able to produce derivatives of three germ layers.

Авторлар туралы

E. Grigor’eva

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences

Хат алмасуға жауапты Автор.
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8

L. Kovalenko

Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut State University”

Email: evlena@bionet.nsc.ru
Russia, 628403, Surgut, prosp. Lenina, 1

J. Rzaev

FSBI Federal Neurosurgical Center

Email: evlena@bionet.nsc.ru
Russia, 630087, Novosibirsk, ul. Nemirovicha-Danchenko, 132/1

E. Khabarova

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; FSBI Federal Neurosurgical Center

Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630087, Novosibirsk, ul. Nemirovicha-Danchenko, 132/1

Y. Vyatkin

Novosibirsk State University

Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, ul. Pirogova, 2

J. Minina

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences

Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10

S. Medvedev

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences

Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8

A. Malakhova

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences

Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8

S. Pavlova

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences

Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8

S. Zakian

Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences

Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8

Әдебиет тізімі

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© Е.В. Григорьева, С.В. Павлова, А.А. Малахова, С.П. Медведев, Ю.М. Минина, Ю.В. Вяткин, Е.А. Хабарова, Дж.А. Рзаев, Л.В. Коваленко, С.М. Закиян, 2023