Generation and characterization of an iPS cell line (PUMCi006-A) from skin fibroblasts of a patient with an M239T mutation in PSEN2 gene.

Abstract

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.

• Authors: Wanwan Zhu, Jinjuan Zhou, Li Shang, You Zhou, Qingyu Wang, Yuesong Yu, Liling Dong, Chenhui Mao, Shanshan Chu, Wei Jin, Jie Li, Jing Gao
• Journal: Stem cell research (Stem Cell Res) Vol. 77 Pg. 103391 (Mar 14 2024) ISSN: 1876-7753 [Electronic] England
• PMID: 38531230 (Publication Type: Journal Article)
• Copyright: Copyright © 2024. Published by Elsevier B.V.