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Stem Cell Res. 2019 Dec 4;42:101675. doi: 10.1016/j.scr.2019.101675. [Epub ahead of print]

Generation of an induced pluripotent stem cell line, ICGi014-A, by reprogramming peripheral blood mononuclear cells from a patient with homozygous D90A mutation in SOD1 causing Amyotrophic lateral sclerosis.

Author information

1
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia.
2
Research Center of Neurology, Moscow, Russia.
3
School of Biological and Medical Physics, Moscow Institute of Physics and Technology (State University), Dolgoprudny, Russia.
4
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia. Electronic address: zakian@bionet.nsc.ru.

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by death of motor neurons. To date, neither etiology nor pathogenesis of ALS are known, which leads to the absence of an effective treatment strategy. ALS patient-specific induced pluripotent stem cells (iPSCs) represent an excellent tool for the disease study. We obtained iPSCs line from peripheral blood mononuclear cells of the patient with homozygous Asp90Ala mutation in the SOD1 gene using non-integrating episomal vectors. The iPSCs line retained pathological genotype and expressed pluripotency markers. It also displayed a normal karyotype and the ability to differentiate into derivatives of three germ layers.

PMID:
31830646
DOI:
10.1016/j.scr.2019.101675
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