Generation of fourteen isogenic cell lines for Parkinson's disease-associated leucine-rich repeat kinase (LRRK2)

Stem Cell Res. 2021 May:53:102354. doi: 10.1016/j.scr.2021.102354. Epub 2021 Apr 15.

Abstract

Mutations in leucine-rich repeat kinase 2 (LRRK2) are associated with inherited forms of Parkinson's disease (PD), causing disease by a gain of kinase function. Here, we describe a series of isogenic iPSC lines with any of five pathogenic mutations (N1437H, R1441C, Y1699C, G2019S and I2020T); two hypothesis testing mutations (GTP binding null, T1348N, and kinase dead, K1906M) and two LRRK2 knockouts. This resource could be used to assess effects of mutations on the function of endogenous LRRK2 and/or to study LRRK2 interactors and substrates in iPSC-derived cellular models.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Cell Line
  • Humans
  • Leucine
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics
  • Mutation
  • Parkinson Disease* / genetics
  • Protein Serine-Threonine Kinases / genetics

Substances

  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases
  • Leucine