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

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

doi:10.1016/j.scr.2016.08.002

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

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

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Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Stem Cell Research
Vol/bind	17
Udgave nummer	2
Sider (fra-til)	285-288
Antal sider	4
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2016.08.002
Status	Udgivet - sep. 2016

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10.1016/j.scr.2016.08.002Licens: CC BY-NC-ND

Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1Forlagets udgivne version, 995 KBLicens: CC BY-NC-ND

Citationsformater

Pires, C., Schmid, B., Petræus, C., Poon, A. F-Y., Nimsanor, N., Nielsen, T. T., Waldemar, G., Hjermind, L. E., Nielsen, J. E., Hyttel, P., & Freude, K. (2016). Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1. Stem Cell Research, 17(2), 285-288. https://doi.org/10.1016/j.scr.2016.08.002

Pires, C, Schmid, B, Petræus, C, Poon, AF-Y, Nimsanor, N, Nielsen, TT, Waldemar, G, Hjermind, LE, Nielsen, JE , Hyttel, P & Freude, K 2016, 'Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1', Stem Cell Research, bind 17, nr. 2, s. 285-288. https://doi.org/10.1016/j.scr.2016.08.002

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abstract = "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.",

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AU - Pires, Carlota

AU - Schmid, Benjamin

AU - Petræus, Carina

AU - Poon, Anna Fong-Yee

AU - Nimsanor, Natakarn

AU - Nielsen, Troels Tolstrup

AU - Waldemar, Gunhild

AU - Hjermind, Lena Elisabeth

AU - Nielsen, Jørgen Erik

AU - Hyttel, Poul

AU - Freude, Kristine

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AB - 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.

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DO - 10.1016/j.scr.2016.08.002

M3 - Journal article

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JO - Stem Cell Research

JF - Stem Cell Research

IS - 2

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

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