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

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 hy...

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Detalles Bibliográficos
Autores principales: Beylina, Aleksandra, Langston, Rebekah G., Rosen, Dorien, Reed, Xylena, Cookson, Mark R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314873/
https://www.ncbi.nlm.nih.gov/pubmed/34087985
http://dx.doi.org/10.1016/j.scr.2021.102354
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author Beylina, Aleksandra
Langston, Rebekah G.
Rosen, Dorien
Reed, Xylena
Cookson, Mark R.
author_facet Beylina, Aleksandra
Langston, Rebekah G.
Rosen, Dorien
Reed, Xylena
Cookson, Mark R.
author_sort Beylina, Aleksandra
collection PubMed
description 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.
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spelling pubmed-83148732021-07-27 Generation of fourteen isogenic cell lines for Parkinson’s disease-associated leucine-rich repeat kinase (LRRK2) Beylina, Aleksandra Langston, Rebekah G. Rosen, Dorien Reed, Xylena Cookson, Mark R. Stem Cell Res Article 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. 2021-04-15 2021-05 /pmc/articles/PMC8314873/ /pubmed/34087985 http://dx.doi.org/10.1016/j.scr.2021.102354 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license.
spellingShingle Article
Beylina, Aleksandra
Langston, Rebekah G.
Rosen, Dorien
Reed, Xylena
Cookson, Mark R.
Generation of fourteen isogenic cell lines for Parkinson’s disease-associated leucine-rich repeat kinase (LRRK2)
title Generation of fourteen isogenic cell lines for Parkinson’s disease-associated leucine-rich repeat kinase (LRRK2)
title_full Generation of fourteen isogenic cell lines for Parkinson’s disease-associated leucine-rich repeat kinase (LRRK2)
title_fullStr Generation of fourteen isogenic cell lines for Parkinson’s disease-associated leucine-rich repeat kinase (LRRK2)
title_full_unstemmed Generation of fourteen isogenic cell lines for Parkinson’s disease-associated leucine-rich repeat kinase (LRRK2)
title_short Generation of fourteen isogenic cell lines for Parkinson’s disease-associated leucine-rich repeat kinase (LRRK2)
title_sort generation of fourteen isogenic cell lines for parkinson’s disease-associated leucine-rich repeat kinase (lrrk2)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314873/
https://www.ncbi.nlm.nih.gov/pubmed/34087985
http://dx.doi.org/10.1016/j.scr.2021.102354
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