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

• Published in: Stem cell research Vol. 42; p. 101675
• Main Authors: Ustyantseva, E.I., Medvedev, S.P., Vetchinova, A.S., Illarioshkin, S.N., Leonov, S.V., Zakian, S.M.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.01.2020; Elsevier
• Subjects: Amyotrophic Lateral Sclerosis - genetics; Animals; Cellular Reprogramming - genetics; Humans; Induced Pluripotent Stem Cells - metabolism; Leukocytes, Mononuclear - metabolism; Mutation; Superoxide Dismutase-1 - genetics
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2019.101675

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.