Articles with "trem2 r47h" as a keyword



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Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

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Published in 2018 at "Stem cell research"

DOI: 10.1016/j.scr.2018.03.011

Abstract: Human lymphoblast cells from a male diagnosed with Alzheimer's disease (AD) expressing the TREM2 p.R47H variant were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, NANOG, LIN28,… read more here.

Keywords: line; expressing trem2; alzheimer disease; r47h variant ... See more keywords
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Trem2 Splicing and Expression are Preserved in a Human Aβ-producing, Rat Knock-in Model of Trem2-R47H Alzheimer’s Risk Variant

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Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-60800-1

Abstract: The R47H variant of the Triggering-Receptor-Expressed on Myeloid cells 2 (TREM2) increases the risk of Alzheimer’s disease (AD). Mutagenesis of exon 2 in Knock-in (KI) mouse models of the R47H variant introduced a cryptic splice site,… read more here.

Keywords: trem2; variant; model; trem2 r47h ... See more keywords