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

从患有家族性帕金森病且携带 LRRK2 基因 I2020T 突变的 PARK8 患者 iPSC 生成基因校正的 iPSC 系 (KEIUi001-A)

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

Abstract

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.

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