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

Mikkel A. Rasmussen; Lena Elisabeth Hjermind; Lis Frydenreich Hasholt; Gunhild Waldemar; Jørgen Erik Nielsen; Christian Clausen; Poul Hyttel; Bjørn Holst

doi:10.1016/j.scr.2015.12.012

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

Mikkel A. Rasmussen, Lena Elisabeth Hjermind, Lis Frydenreich Hasholt, Gunhild Waldemar, Jørgen Erik Nielsen, Christian Clausen, Poul Hyttel, Bjørn Holst

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Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Stem Cell Research
Vol/bind	16
Udgave nummer	1
Sider (fra-til)	105-109
Antal sider	5
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2015.12.012
Status	Udgivet - 1 jan. 2016

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Rasmussen, M. A., Hjermind, L. E., Hasholt, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P., & Holst, B. (2016). Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. Stem Cell Research, 16(1), 105-109. https://doi.org/10.1016/j.scr.2015.12.012

Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. / Rasmussen, Mikkel A.; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich et al.
I: Stem Cell Research, Bind 16, Nr. 1, 01.01.2016, s. 105-109.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Rasmussen, MA, Hjermind, LE, Hasholt, LF , Waldemar, G , Nielsen, JE, Clausen, C, Hyttel, P & Holst, B 2016, 'Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia', Stem Cell Research, bind 16, nr. 1, s. 105-109. https://doi.org/10.1016/j.scr.2015.12.012

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abstract = "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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AU - Hasholt, Lis Frydenreich

AU - Waldemar, Gunhild

AU - Nielsen, Jørgen Erik

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

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