Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

Anna Fong-Yee Poon; Benjamin Schmid; Carlota Pires; Troels Tolstrup Nielsen; Lena Elisabeth Hjermind; Jørgen Erik Nielsen; Bjørn Holst; Poul Hyttel; Kristine Freude

doi:10.1016/j.scr.2016.09.018

Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

Anna Fong-Yee Poon, Benjamin Schmid, Carlota Pires, Troels Tolstrup Nielsen, Lena Elisabeth Hjermind, Jørgen Erik Nielsen, Bjørn Holst, Poul Hyttel, Kristine Freude

17 Citations (Scopus)

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Abstract

Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation.

Original language	English
Journal	Stem Cell Research
Volume	17
Issue number	3
Pages (from-to)	466-469
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2016.09.018
Publication status	Published - Nov 2016

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Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1Final published version, 924 KBLicence: CC BY-NC-ND

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title = "Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1",

abstract = "Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation.",

author = "Poon, {Anna Fong-Yee} and Benjamin Schmid and Carlota Pires and Nielsen, {Troels Tolstrup} and Hjermind, {Lena Elisabeth} and Nielsen, {J{\o}rgen Erik} and Bj{\o}rn Holst and Poul Hyttel and Kristine Freude",

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doi = "10.1016/j.scr.2016.09.018",

language = "English",

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T1 - Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

AU - Poon, Anna Fong-Yee

AU - Schmid, Benjamin

AU - Pires, Carlota

AU - Nielsen, Troels Tolstrup

AU - Hjermind, Lena Elisabeth

AU - Nielsen, Jørgen Erik

AU - Holst, Bjørn

AU - Hyttel, Poul

AU - Freude, Kristine

PY - 2016/11

Y1 - 2016/11

N2 - Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation.

AB - Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation.

U2 - 10.1016/j.scr.2016.09.018

DO - 10.1016/j.scr.2016.09.018

M3 - Journal article

C2 - 27789395

SN - 1873-5061

VL - 17

SP - 466

EP - 469

JO - Stem Cell Research

JF - Stem Cell Research

IS - 3

ER -

Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

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