Work

Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia

Year: 2026

Type: article

Abstract: The CHMP2B gene is recognized as a causative factor in neurodegenerative disorders, particularly frontotemporal dementia (FTD). In this study, peripheral blood mononuclear cells (PBMCs) were obtained from a FTD patient carrying a heterozygous CHMP2B c.532-2 (A > T) mutation and successfully reprogrammed into induced pluripotent stem cell (iPSC) line HMSCATi009-A. The resulting iPSC line exhibited a normal karyotype, expressed high levels of core pluripotency markers, and retained the potential to differentiate into derivatives of all three germ layers, ectoderm, mesoderm, and endoderm. Furthermore, the iPSC line was verified negative for mycoplasma contamination. This patient-specific iPSC line constitutes a physiologically relevant platform for elucidating FTD pathogenic mechanisms and supporting screening for novel therapeutics.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103903