Generation of gene-corrected iPSCs line (KEIUi001-A) from a PARK8 patient iPSCs with familial Parkinson's disease carrying the I2020T mutation in LRRK2

  • Etsuro Ohta
  • , Takefumi Sone
  • , Hideki Ukai
  • , Tomoko Hisamatsu
  • , Tokiko Kitagawa
  • , Mitsuru Ishikawa
  • , Makiko Nagai
  • , Hiroki R. Ueda
  • , Fumiya Obata
  • , Hideyuki Okano

研究成果: ジャーナルへの寄稿学術論文査読

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抄録

Leucine-rich repeat kinase 2 (LRRK2) is the causal gene of the autosomal dominant hereditary form of Parkinson's disease (PD), PARK8. We have previously reported that induced pluripotent stem cells (iPSCs) from a PARK8 patient with I2020T LRRK2 mutation replicated to some extent the pathologic phenotype evident in the brain of PD patients. In the present study, we generated gene-corrected iPSCs line, KEIUi001-A, using TALEN-mediated genome editing. KEIUi001-A retained a normal karyotype and pluripotency, i.e. the capacity to differentiate into cell types of the three germ layers. This iPSCs will be valuable for clarifying various aspects of LRRK2-related pathology.

本文言語英語
論文番号102073
ジャーナルStem Cell Research
49
DOI
出版ステータス出版済み - 12-2020
外部発表はい

All Science Journal Classification (ASJC) codes

  • 発生生物学
  • 細胞生物学

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