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

Leventoux Nicolas, Morimoto Satoru, Hara Kenju, Nakamura Shiho, Ozawa Fumiko, Mitsuzawa Shio, Akiyama Tetsuya, Nishiyama Ayumi, Suzuki Naoki, Warita Hitoshi, Aoki Masashi, Okano Hideyuki

研究成果: Article査読

1 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号101896
ジャーナルStem Cell Research
47
DOI
出版ステータスPublished - 2020 8

ASJC Scopus subject areas

  • 発生生物学
  • 細胞生物学

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