Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1

TY - JOUR

T1 - Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1

AU - Li, Tong

AU - Pires, Carlota

AU - Nielsen, Troels Tolstrup

AU - Waldemar, Gunhild

AU - Hjermind, Lena Elisabeth

AU - Nielsen, Jørgen Erik

AU - Dinnyes, Andras

AU - Holst, Bjørn

AU - Hyttel, Poul

AU - Freude, Kristine

N1 - Copyright © 2016 University of Texas at Austin Dell Medical School. Published by Elsevier B.V. All rights reserved.

PY - 2016/3/1

Y1 - 2016/3/1

N2 - Skin fibroblasts were obtained from a 48-year-old presymptomatic woman carrying a A79V mutation in the presenilin 1 gene (. PSEN1), causing Alzheimer's disease (AD). Induced pluripotent stem cell (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. A79V-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported A79V-iPSCs line may be a useful resource for in vitro modeling of familial AD.

AB - Skin fibroblasts were obtained from a 48-year-old presymptomatic woman carrying a A79V mutation in the presenilin 1 gene (. PSEN1), causing Alzheimer's disease (AD). Induced pluripotent stem cell (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. A79V-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported A79V-iPSCs line may be a useful resource for in vitro modeling of familial AD.

KW - Alzheimer Disease

KW - Cell Differentiation

KW - Cells, Cultured

KW - Cellular Reprogramming

KW - Embryoid Bodies

KW - Exons

KW - Humans

KW - Induced Pluripotent Stem Cells

KW - Karyotype

KW - Male

KW - Microscopy, Fluorescence

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

KW - Presenilin-1

KW - Real-Time Polymerase Chain Reaction

KW - Sequence Analysis, DNA

KW - Transcription Factors

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1016/j.scr.2016.01.001

DO - 10.1016/j.scr.2016.01.001

M3 - Journal article

C2 - 27345998

SN - 1873-5061

VL - 16

SP - 334

EP - 337

JO - Stem Cell Research

JF - Stem Cell Research

IS - 2

ER -