Derivation of human induced pluripotent stem cell (iPSC) line with LRRK2 gene R1398H variant in Parkinson's disease

Dongrui Ma; Murni Tio; Shin Hui Ng; Li Zeng; Christina Ying Yan Lim; Yi Zhao; Eng King Tan

doi:10.1016/j.scr.2016.12.014

Derivation of human induced pluripotent stem cell (iPSC) line with LRRK2 gene R1398H variant in Parkinson's disease

Stem Cell Res. 2017 Jan:18:48-50. doi: 10.1016/j.scr.2016.12.014. Epub 2016 Dec 9.

Authors

Dongrui Ma¹, Murni Tio², Shin Hui Ng², Li Zeng², Christina Ying Yan Lim², Yi Zhao³, Eng King Tan⁴

Affiliations

¹ Neurology, Singapore General Hospital, 169608, Singapore.
² Neurology, National Neuroscience Institute, 308433, Singapore.
³ Department of Clinical Research, Singapore General Hospital, 169608, Singapore.
⁴ Neurology, Singapore General Hospital, 169608, Singapore; Neurology, National Neuroscience Institute, 308433, Singapore; Duke NUS Graduate Medical School, 169857, Singapore.

PMID: 28395803
DOI: 10.1016/j.scr.2016.12.014

Abstract

Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 72-year old female Parkinson's disease (PD) patient with R1398H variant in the LRRK2 gene. The PMBCs were reprogrammed with the human OSKM transcription factors using the Sendai-virus reprogramming system. The transgene-free iPSC showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. The iPSC line also showed normal karyotype. This cellular model provides a good platform for studying the mechanism of PD, and also for drug testing and gene therapy studies.

Publication types

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

MeSH terms

Aged
Animals
Base Sequence
Cell Differentiation
Cell Line
Cellular Reprogramming*
DNA Mutational Analysis
Female
Genetic Vectors / genetics
Genetic Vectors / metabolism
Genotype
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Induced Pluripotent Stem Cells / transplantation
Karyotype
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics*
Leukocytes, Mononuclear / cytology
Leukocytes, Mononuclear / metabolism
Mice
Mice, Inbred NOD
Mice, SCID
Microscopy, Fluorescence
Parkinson Disease / genetics
Parkinson Disease / metabolism
Parkinson Disease / pathology*
Polymorphism, Single Nucleotide
Sendai virus / genetics
Teratoma / metabolism
Teratoma / pathology
Transcription Factors / genetics
Transcription Factors / metabolism

Substances

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