Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT)
- Rasmussen, Mikkel A.
- Hjermind, Lena E.
- Hasholt, Lis F.
- Waldemar, Gunhild
- Nielsen, Jørgen E.
- Clausen, Christian
- Hyttel, Poul
- Holst, Bjørn
DOIAbstract
AbstractSkin fibroblasts were obtained from a 57-year-old woman diagnosed with frontotemporal dementia. The disease is caused by a P301L mutation in microtubule-associated protein tau (MAPT). Induced pluripotent stem cells (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.902C>T substitution in exon 10 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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