Article open access publication

Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia

Stem Cell Research, Elsevier, ISSN 1873-5061

Volume 16, 1, 2016

DOI:10.1016/j.scr.2015.12.012, Dimensions: pub.1023340210, PMID: 27345791,

Affiliations

Organisations

  1. (1) Bioneer (Denmark), grid.424169.c
  2. (2) Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
  3. (3) University of Copenhagen, grid.5254.6, KU

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Denmark

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Europe

Description

Skin fibroblasts were obtained from a 28-year-old pre-symptomatic woman carrying a R406W mutation in microtubule-associated protein tau (MAPT), known to cause frontotemporal dementia. Induced pluripotent stem cell (iPSCs) were established by electroporation with episomal plasmids containing hOCT4, hSOX2, hKLF2, hL-MYC, hLIN-28 and shP53. iPSCs were free of genomically integrated reprogramming genes, contained the expected c.1216C>T substitution in exon 13 of the MAPT gene, expressed the expected pluripotency markers, displayed in vitro differentiation potential to the three germ layers and had normal karyotype. The iPSC line may be useful for studying hereditary frontotemporal dementia and TAU pathology in vitro.

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University of Copenhagen

Danish Open Access Indicator

2016: Realized

Research area: Medicine

Danish Bibliometrics Indicator

2016: Level 1

Research area: Medicine

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Times Cited: 4

Field Citation Ratio (FCR): 0.65

Relative Citation ratio (RCR): 0.29

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