Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1

TY - JOUR

T1 - Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1

AU - Li, Tong

AU - Pires, Carlota

AU - Nielsen, Troels Tolstrup

AU - Waldemar, Gunhild

AU - Hjermind, Lena E.

AU - Nielsen, Jørgen E.

AU - Dinnyes, Andras

AU - Hyttel, Poul

AU - Freude, Kristine K.

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 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.

AB - 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.

KW - Alzheimer Disease

KW - Base Sequence

KW - Cell Differentiation

KW - Cells, Cultured

KW - Cellular Reprogramming

KW - Exons

KW - Female

KW - Fibroblasts

KW - Humans

KW - Induced Pluripotent Stem Cells

KW - Karyotype

KW - Microscopy, Fluorescence

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

KW - Presenilin-1

KW - Real-Time Polymerase Chain Reaction

KW - Transcription Factors

KW - Journal Article

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

U2 - 10.1016/j.scr.2016.01.002

DO - 10.1016/j.scr.2016.01.002

M3 - Journal article

C2 - 27345973

SN - 1873-5061

VL - 16

SP - 229

EP - 332

JO - Stem Cell Research

JF - Stem Cell Research

IS - 2

ER -