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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Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1. / Poon, Anna Fong-Yee; Schmid, Benjamin; Pires, Carlota; Nielsen, Troels Tolstrup; Hjermind, Lena Elisabeth; Nielsen, Jørgen Erik; Holst, Bjørn; Hyttel, Poul; Freude, Kristine.
I: Stem Cell Research, Bind 17, Nr. 3, 11.2016, s. 466-469.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
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
N1 - Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.
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
VL - 17
SP - 466
EP - 469
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
IS - 3
ER -
ID: 172816879