TY - JOUR
T1 - Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1
AU - Poon, Anna Fong-Yee
AU - Li, Tong
AU - Pires, Carlota
AU - Nielsen, Troels Tolstrup
AU - Nielsen, Jørgen Erik
AU - Holst, Bjørn
AU - Dinnyes, Andras
AU - Hyttel, Poul
AU - Freude, Kristine
N1 - Copyright © 2016. Published by Elsevier B.V.
PY - 2016/11
Y1 - 2016/11
N2 - Mutations in presenilin 1 (PSEN1) lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients can be differentiated and used for disease modeling. Here, we derived hiPSC from skin fibroblasts obtained from an AD patient carrying a L282F mutation in PSEN1. We transfected skin fibroblasts with episomal iPSC reprogramming vectors targeting human OCT4, SOX2, L-MYC, KLF4, NANOG, LIN28, and short hairpin RNA against TP53. Our hiPSC line, L282F-hiPSC, displayed typical stem cell characteristics with consistent expression of pluripotency genes and the ability to differentiation into the three germ layers.
AB - Mutations in presenilin 1 (PSEN1) lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients can be differentiated and used for disease modeling. Here, we derived hiPSC from skin fibroblasts obtained from an AD patient carrying a L282F mutation in PSEN1. We transfected skin fibroblasts with episomal iPSC reprogramming vectors targeting human OCT4, SOX2, L-MYC, KLF4, NANOG, LIN28, and short hairpin RNA against TP53. Our hiPSC line, L282F-hiPSC, displayed typical stem cell characteristics with consistent expression of pluripotency genes and the ability to differentiation into the three germ layers.
U2 - 10.1016/j.scr.2016.09.016
DO - 10.1016/j.scr.2016.09.016
M3 - Journal article
C2 - 27789396
SN - 1873-5061
VL - 17
SP - 470
EP - 473
JO - Stem Cell Research
JF - Stem Cell Research
IS - 3
ER -
