Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1
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Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1. / Li, Tong; Pires, Carlota; Nielsen, Troels Tolstrup; Waldemar, Gunhild; Hjermind, Lena E.; Nielsen, Jørgen E.; Dinnyes, Andras; Hyttel, Poul; Freude, Kristine K.
I: Stem Cell Research, Bind 16, Nr. 2, 03.2016, s. 229-332.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
Y1 - 2016/3
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 - 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
VL - 16
SP - 229
EP - 332
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
IS - 2
ER -
ID: 173167997