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Article

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

Stem cell research - 1 Jun 2024

Zhu Wanwan, Zhou Jinjuan, Shang Li, Zhou You, Wang Qingyu, Yu Yuesong, Dong Liling, Mao Chenhui, Chu Shanshan, Jin Wei, Li Jie, Gao Jing

Abstract excerpt

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...

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Identifiers

PMID: 38531230
DOI: 10.1016/j.scr.2024.103391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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