@article{c813379967184105ab48b8f3ab9a954e,
title = "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",
abstract = "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.",
author = "Leventoux Nicolas and Morimoto Satoru and Hara Kenju and Nakamura Shiho and Ozawa Fumiko and Mitsuzawa Shio and Akiyama Tetsuya and Nishiyama Ayumi and Suzuki Naoki and Warita Hitoshi and Aoki Masashi and Okano Hideyuki",
note = "Funding Information: The authors want to thank from the Department of Physiology at Keio University School of Medicine: Ms Yuka Hiroi, Ms Sachiyo Miyao, Ms Miki Sato and Ms Naoko Yamamoto for their helpful technical skills, Dr. Mitsuru Ishikawa and Dr. Shinsuke Shibata for providing antibodies and analysis advice and Mr. Sho Yoshimatsu for providing phosphatase alkaline reagent for staining ; the facilities from LSI Medience Corporation, Japan (karyotyping) ; Eurofins Genomics K.K. Japan (sequencing). TaKaRa, Japan (STR analysis) for their excellent work and Prof. Shinya Yamanaka for providing the control hiPSC line 201B7. The study was performed under the support of JSPS KAKENHI to S.M. (Grant No. 19K17002), the Japan Agency for Medical Research and Development (AMED) [the Acceleration Program for Intractable Disease Research Utilizing Disease-Specific iPS Cells to H.O. (Grants No. 19bm0804003h0003, 20bm0804003h0004) and the Research on Practical Application of Innovative Pharmaceutical and Medical Devices for Rare and Intractable Diseases to H.O. (Grants No. JP 18ek0109395h0001, 19ek0109395h0002, 20ek0109395h0003). This research was also supported by grants from Keio University Global Initiative Research Projects. Leventoux Nicolas is an International Research Fellow of Japan Society for the Promotion of Science (Postdoctoral Fellowships for Research in Japan). Funding Information: The study was performed under the support of JSPS KAKENHI to S.M. (Grant No. 19K17002 ), the Japan Agency for Medical Research and Development (AMED) [the Acceleration Program for Intractable Disease Research Utilizing Disease-Specific iPS Cells to H.O. (Grants No. 19bm0804003h0003, 20bm0804003h0004) and the Research on Practical Application of Innovative Pharmaceutical and Medical Devices for Rare and Intractable Diseases to H.O. (Grants No. JP 18ek0109395h0001, 19ek0109395h0002, 20ek0109395h0003). This research was also supported by grants from Keio University Global Initiative Research Projects. Leventoux Nicolas is an International Research Fellow of Japan Society for the Promotion of Science (Postdoctoral Fellowships for Research in Japan). Publisher Copyright: {\textcopyright} 2020 The Author(s)",
year = "2020",
month = aug,
doi = "10.1016/j.scr.2020.101896",
language = "English",
volume = "47",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
}
