Generation of induced pluripotent stem cells (NIMHi001-A) from a Parkinson's disease patient of East Indian ethnicity carrying LRRK2 I1371V variant

Stem Cell Res. 2020 Apr:44:101768. doi: 10.1016/j.scr.2020.101768. Epub 2020 Mar 17.

Abstract

Mutations in the Leucine Repeat Rich Kinase-2 (LRRK2) gene have been reported in familial Parkinson's disease (PD) cases. We have generated induced pluripotent stem cells (iPSCs) using Sendai-virus reprogramming-method from peripheral blood mononuclear cells of PD-patient of East-Indian ethnicity carrying the I1371V mutation in LRRK2 gene. PD diagnosis was performed using Unified Parkinson's Disease rating scale (UPDRS) score and confirmed by [18F]fluoro-l-dopa [F-DOPA] positron emission tomography (F-DOPA PET). The iPSC line was characterized for self-renewal and pluripotency. This cellular model will provide a valuable resource not only for drug-screening platform but also to understand the pathophysiology of this disease.

Keywords: FDOPA PET; I1371 variant; Indian ethnicity; Induced pluripotent stem cells; Leucine Rich Repeat Kinase 2; Parkinson's disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ethnicity
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leucine
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics
  • Leukocytes, Mononuclear
  • Mutation
  • Parkinson Disease* / genetics

Substances

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