Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Friederike Schröter; Kristel Sleegers; Elise Cuyvers; Martina Bohndorf; Wasco Wruck; Christine Van Broeckhoven; James Adjaye

doi:10.1016/j.scr.2015.12.017

Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Stem Cell Res. 2016 Jan;16(1):113-5. doi: 10.1016/j.scr.2015.12.017. Epub 2015 Dec 28.

Authors

Friederike Schröter¹, Kristel Sleegers², Elise Cuyvers², Martina Bohndorf¹, Wasco Wruck¹, Christine Van Broeckhoven², James Adjaye³

Affiliations

¹ Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr, 5, 40225 Düsseldorf, Germany.
² Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
³ Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr, 5, 40225 Düsseldorf, Germany. Electronic address: James.Adjaye@med.uni-duesseldorf.de.

PMID: 27345793
DOI: 10.1016/j.scr.2015.12.017

Abstract

Human lymphoblast cells from a male patient diagnosed with Alzheimer's disease (AD) expressing the TREM2 p.R47H variant were used to generate integration-free induced pluripotent stem (iPS) cells employing episomal plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. The iPS cells retained the TREM2 mutation, and were defined as pluripotent based on (i) expression of pluripotent-associated markers, (ii) embryoid body-based differentiation into cell types representative of the three germ layers and (iii) the similarity between the transcriptomes of the iPS cell line and the human embryonic stem cell line H1 with a Pearson correlation of 0.966.

Publication types

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

MeSH terms

Aged
Alzheimer Disease / metabolism
Alzheimer Disease / pathology*
Base Sequence
Cell Differentiation
Cell Line
Cellular Reprogramming
DNA Mutational Analysis
Embryoid Bodies / cytology
Embryoid Bodies / metabolism
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Karyotype
Male
Membrane Glycoproteins / genetics*
Membrane Glycoproteins / metabolism
Plasmids / metabolism
Polymorphism, Single Nucleotide
Receptors, Immunologic / genetics*
Receptors, Immunologic / metabolism
Transcription Factors / genetics
Transcription Factors / metabolism
Transfection

Substances

Membrane Glycoproteins
Receptors, Immunologic
TREM2 protein, human
Transcription Factors