title: Generation of a human induced pluripotent stem cell (iPSC) line carrying the Parkinson's disease linked LRRK2 variant S1647T.
abstract: Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 64-year old male Parkinson's disease (PD) patient with S1647T 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 will be useful for further function studies and therapeutic screening.
authors.affiliation: Neurology, Singapore General Hospital, 169608, Singapore.
authors.forename: Dongrui
authors.initials: D
authors.lastname: Ma
authors.affiliation: Neurology, National Neuroscience Institute of Singapore, 308433, Singapore.
authors.forename: Shin Hui
authors.initials: SH
authors.lastname: Ng
authors.affiliation: Neurology, National Neuroscience Institute of Singapore, 308433, Singapore.
authors.forename: Li
authors.initials: L
authors.lastname: Zeng
authors.affiliation: Department of Clinical Research, Singapore General Hospital, 169608, Singapore.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Neurology, Singapore General Hospital, 169608, Singapore; Neurology, National Neuroscience Institute of Singapore, 308433, Singapore; Duke NUS Graduate Medical School, 169857, Singapore.
authors.forename: Eng King
authors.initials: EK
authors.lastname: Tan
mesh_terms: D000818:Animals; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000166:cytology / Q000378:metabolism; D008297:Male; D051379:Mice; D016688:Mice, Inbred NOD; D016513:Mice, SCID; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide; D013724:Teratoma / Q000378:metabolism / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D014157:Transcription Factors; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2