Stem Cell Research (Dec 2020)

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

Journal volume & issue
Vol. 49
p. 102073

Abstract

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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.