Generation of an induced pluripotent stem cell line (DANi-011A) from a Parkinson's disease patient with a LRRK2 p.G2019S mutation

Muwan Chen; Muyesier Maimaitili; Susanne Hvolbøl Buchholdt; Uffe Birk Jensen; Fabia Febbraro; Mark Denham

doi:10.1016/j.scr.2020.101781

Generation of an induced pluripotent stem cell line (DANi-011A) from a Parkinson's disease patient with a LRRK2 p.G2019S mutation

Stem Cell Res. 2020 May:45:101781. doi: 10.1016/j.scr.2020.101781. Epub 2020 Mar 29.

Authors

Muwan Chen¹, Muyesier Maimaitili¹, Susanne Hvolbøl Buchholdt¹, Uffe Birk Jensen², Fabia Febbraro³, Mark Denham⁴

Affiliations

¹ Danish Research Institute of Translational Neuroscience (DANDRITE), Nordic EMBL Partnership for Molecular Medicine, Aarhus University, Denmark; Department of Biomedicine, Aarhus University, Denmark.
² Department of Biomedicine, Aarhus University, Denmark; Department for Clinical Genetics, Aarhus University Hospital, Denmark.
³ Danish Research Institute of Translational Neuroscience (DANDRITE), Nordic EMBL Partnership for Molecular Medicine, Aarhus University, Denmark; Department of Health Science and Technology, Aalborg University, Denmark.
⁴ Danish Research Institute of Translational Neuroscience (DANDRITE), Nordic EMBL Partnership for Molecular Medicine, Aarhus University, Denmark; Department of Biomedicine, Aarhus University, Denmark. Electronic address: mden@dandrite.au.dk.

PMID: 32305865
DOI: 10.1016/j.scr.2020.101781

Abstract

We generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a clinically diagnosed 70 year old female Parkinson's disease (PD) patient heterozygous for a pathogenic missense variant (p.G2019S; c. 6055 G > A) in the leucine-rich repeat kinase 2 (LRRK2) gene by using non-integrating Sendai viruses. The DANi-011A iPSC line has a normal karyotype and is free from Sendai viruses. The expression of pluripotent markers in the iPSC line was confirmed by immunofluorescent staining, and we confirmed its ability to differentiate into the three germ layers. The DANi-011A iPSC line can be used for modeling PD and as a drug-screening platform.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Cell Line
Female
Humans
Induced Pluripotent Stem Cells*
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics
Mutation
Parkinson Disease* / genetics

Substances

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