Generation and characterization of an iPS cell line (PUMCi006-A) from skin fibroblasts of a patient with an M239T mutation in PSEN2 gene
Summary
Presenilin-2 (PSEN2) mutation is one of the pathogenic factors of autosomal dominant early-onset Alzheimer's disease (EOAD). We generated a human induced pluripotent stem cell (iPSC) line from fibroblasts of an EOAD patient carrying PSEN2 mutation (c.716 T > C) utilizing Sendai reprogramming kit. The resulting iPSC line carried patient-specific point mutation, exhibited typical iPSC morphology, retained a normal karyotype, expressed pluripotency markers, and could form embryoid bodies. Established iPSC line serve as valuable resource for EOAD disease pathogenesis modelling and drug screening. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhu W, Zhou J, Shang L, Zhou Y, Wang Q, Yu Y, Dong L, Mao C, Chu S, Jin W, Li J, Gao J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103391 |
| PubMed | 38531230 |
| DOI | 10.1016/j.scr.2024.103391 |