Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation


Amyotrophic Lateral Sclerosis is the most common motor neuron degenerative disease in adults, and TARDBP gene mutations have been reported to be involved in the pathogenesis. We present here how we generated the human induced pluripotent stem cell (hiPSC) line KEIOi001-A/SM4-4-5 from the peripheral blood of a 63-year-old male patient presenting the c.1035C > G heterozygous SNP mutation in the TARDBP gene locus. The established hiPSC line does not express the exogenous reprogramming factors oriP nor EBNA1 and shows no karyotypic abnormalities, while it expresses pluripotent stem cell markers, presents the SNP mutation and is capable of three-germ layers differentiation in vitro. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Leventoux N, Morimoto S, Hara K, Nakamura S, Ozawa F, Mitsuzawa S, Akiyama T, Nishiyama A, Suzuki N, Warita H, Aoki M, Okano H
Journal Stem cell research
Publication Date 2020 Jun 28;47:101896
PubMed 32659732
DOI 10.1016/j.scr.2020.101896

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