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Generation of fourteen isogenic cell lines for Parkinson's disease-associated leucine-rich repeat kinase (LRRK2)
- Source :
- Stem cell research, Stem Cell Research, Vol 53, Iss, Pp 102354-(2021)
- Publication Year :
- 2021
-
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.
- Subjects :
- 0301 basic medicine
Parkinson's disease
GTP'
QH301-705.5
Leucine-rich repeat
Biology
Protein Serine-Threonine Kinases
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Article
Cell Line
03 medical and health sciences
0302 clinical medicine
Leucine
medicine
Humans
Biology (General)
Gene knockout
Genetics
Kinase
Parkinson Disease
Cell Biology
General Medicine
medicine.disease
LRRK2
Isogenic human disease models
nervous system diseases
030104 developmental biology
Mutation
030217 neurology & neurosurgery
Function (biology)
Developmental Biology
Subjects
Details
- ISSN :
- 18767753
- Volume :
- 53
- Database :
- OpenAIRE
- Journal :
- Stem cell research
- Accession number :
- edsair.doi.dedup.....e9a8cd4cb566dba17d50c29ccbfe8213