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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ustyantseva EI, Medvedev SP, Vetchinova AS, Illarioshkin SN, Leonov SV, Zakian SM
Journal Stem cell research
Publication Date 2020 Jan;42:101675
PubMed 31830646
DOI 10.1016/j.scr.2019.101675

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