Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia
Summary
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. Copyright © 2025. Published by Elsevier B.V.
| Authors | Wang J, Hu A, Zhao H, Cao B, Wang S, Ma M, Ren Q |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jan 3;90:103903 |
| PubMed | 41505926 |
| DOI | 10.1016/j.scr.2025.103903 |