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

• Published in: Stem cell research Vol. 16; no. 1; pp. 105 - 109
• Main Authors: Rasmussen, Mikkel A., Hjermind, Lena E., Hasholt, Lis F., Waldemar, Gunhild, Nielsen, Jørgen E., Clausen, Christian, Hyttel, Poul, Holst, Bjørn
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.01.2016
• Subjects: Adult; Cell Culture Techniques - methods; Cell Differentiation; DNA Mutational Analysis; Female; Frontotemporal Dementia - genetics; Heterozygote; Humans; Induced Pluripotent Stem Cells - cytology; Karyotyping; Mutation - genetics; Reproducibility of Results; tau Proteins - genetics
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2015.12.012

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.