Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT

Abstract

Frontotemporal dementia (FTD) caused by microtubule-associated protein tau (MAPT) mutations is not rare and is almost fully penetrant. However, no disease-modifying treatment for FTD is currently available. Here, we demonstrated the establishment and characterization of a novel human induced pluripotent stem cell (iPSC) line ICNDXHi001-A from a patient with FTD carrying genetic variant MAPT c.796C > G (p.L266V). The generated cell line showed trilineage differentiation potential, expression of pluripotency markers, a normal karyotype, and retention of MAPT mutation. The study provides a useful model to further elucidate the underlying mechanisms of FTD and to facilitate novel therapy development.