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.

Original language	English
Journal	Stem Cell Research
Volume	16
Issue number	1
Pages (from-to)	105-109
Number of pages	5
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2015.12.012
Publication status	Published - 1 Jan 2016

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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 dementiaFinal published version, 0.99 MB

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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.
In: Stem Cell Research, Vol. 16, No. 1, 01.01.2016, p. 105-109.

Research output: Contribution to journal › Journal article › Research › 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, vol. 16, no. 1, pp. 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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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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