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

被引：0

作者：

Zhu, Wanwan ^{[1
,2
]}

Zhou, Jinjuan ^{[1
,2
]}

Shang, Li ^{[3
]}

Zhou, You ^{[1
,2
]}

Wang, Qingyu ^{[1
,2
]}

Yu, Yuesong ^{[1
,2
]}

Dong, Liling ^{[3
]}

Mao, Chenhui ^{[3
]}

Chu, Shanshan ^{[3
]}

Jin, Wei ^{[3
]}

Li, Jie ^{[3
]}

Gao, Jing ^{[3
]}

机构：

[1] Chinese Acad Med Sci, Peking Union Med Coll, Sch Basic Med, State Key Lab Med Mol Biol,Inst Basic Med Sci, Beijing 100005, Peoples R China

[2] Chinese Acad Med Sci, Neurosci Ctr, Beijing 100005, Peoples R China

[3] Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Neurol, State Key Lab Complex Severe & Rare Dis, Beijing 100005, Peoples R China

来源：

STEM CELL RESEARCH | 2024年 / 77卷

基金：

中国国家自然科学基金;

关键词：

D O I：

10.1016/j.scr.2024.103391

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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.

引用

页数：5

共 4 条

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