@article{700d94f744a846c2be60d076b6790a4b,
title = "Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1",
abstract = "Skin fibroblasts were obtained from a 46-year-old symptomatic man carrying a M146I mutation in the presenilin 1 gene (PSEN1), responsible for causing Alzheimer's disease (AD). Induced pluripotent stem cells (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. M146I-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 M146I-iPSCs line may be a useful resource for in vitro modeling of familial AD.",
keywords = "Alzheimer Disease, Base Sequence, Cell Differentiation, Cells, Cultured, Cellular Reprogramming, Exons, Female, Fibroblasts, Humans, Induced Pluripotent Stem Cells, Karyotype, Microscopy, Fluorescence, Middle Aged, Polymorphism, Single Nucleotide, Presenilin-1, Real-Time Polymerase Chain Reaction, Transcription Factors, Journal Article, Research Support, Non-U.S. Gov't",
author = "Tong Li and Carlota Pires and Nielsen, {Troels Tolstrup} and Gunhild Waldemar and Hjermind, {Lena E.} and Nielsen, {J{\o}rgen E.} and Andras Dinnyes and Poul Hyttel and Freude, {Kristine K.}",
note = "Copyright {\textcopyright} 2016 University of Texas at Austin Dell Medical School. Published by Elsevier B.V. All rights reserved.",
year = "2016",
month = mar,
day = "1",
doi = "10.1016/j.scr.2016.01.002",
language = "English",
volume = "16",
pages = "229--332",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
number = "2",
}