Stem Cell Research (Feb 2023)

Generation of a human iPSC line (CIBi014-A) from a patient with Parkinson’s disease carrying a novel heterozygotic PARK8 (LRRK2) mutation

  • Lingfei Li,
  • Xiaoli Si,
  • Jiayin Yang,
  • Meng Lei,
  • Huifang Liu,
  • Jie Ruan,
  • Hanting Fu,
  • Wenxuan Li,
  • Hui Yang,
  • Xiaoguang Lei,
  • Hongfei Sang

Journal volume & issue
Vol. 66
p. 102995

Abstract

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Leucine-rich repeat kinase 2 (LRRK2), also known as Dardarin (derived from the Basque word “dardara,” meaning tremor), is a protein kinase encoded by the PARK8 gene. This protein is mainly distributed in the cytoplasm; however, it is also present in the mitochondrial outer membrane. Mutations in the LRRK2 protein cause Parkinson's disease (PD). We generated a human induced pluripotent stem cell (iPSC) line (CIBi014-A) expressing pluripotency markers. This cell line exhibited a normal karyotype and could be differentiated into three germ layers in vitro. This line will be valuable for investigating the mechanism underlying PD and identifying potential therapeutic targets.