Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Carlota Pires, Benjamin Schmid, Carina Petræus, Anna Fong-Yee Poon, Natakarn Nimsanor, Troels Tolstrup Nielsen, Gunhild Waldemar, Lena Elisabeth Hjermind, Jørgen Erik Nielsen, Poul Hyttel, Kristine Freude

Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease causing neural cell degeneration and brain atrophy and is considered to be the most common form of dementia. We previously generated an induced pluripotent stem cell (iPSC) line from an AD patient carrying an A79V mutation in PSEN1 as an in vitro disease model. Here we generated a gene-corrected version from this hiPSC line by substituting the point mutation with the wild-type sequence. The reported A79V-GC-iPSCs line is a very useful resource in combination with the A79V-iPSC line in order to study pathological cellular phenotypes related to this particular mutation.
OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind17
Udgave nummer2
Sider (fra-til)285-288
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - sep. 2016

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