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.

Original language	English
Journal	Stem Cell Research
Volume	17
Issue number	2
Pages (from-to)	285-288
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2016.08.002
Publication status	Published - Sept 2016

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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 PSEN1Final published version, 995 KBLicence: CC BY-NC-ND

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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, vol. 17, no. 2, pp. 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.

U2 - 10.1016/j.scr.2016.08.002

DO - 10.1016/j.scr.2016.08.002

M3 - Journal article

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SN - 1873-5061

VL - 17

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EP - 288

JO - Stem Cell Research

JF - Stem Cell Research

IS - 2

ER -

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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