分子生物学
IVD分子诊断
细胞培养与分析
蛋白研究
细胞因子
重组蛋白
抗体
高通量测序建库
病原检测UCF系列
生物医药
工具酶
抑制剂激活剂与常用试剂
仪器
耗材

Generation of a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient carrying an E363Q mutation in PSEN1 gene

Wanwan Zhu, You Zhou, Qingyu Wang, Jie Li, Shanshan Chu, Wei Jin, Chenhui Mao, Liling Dong, Jing Gao, Qi Xu

Journal:Stem Cell Research

IF:1.59

DOI:10.1016/j.scr.2022.102769

PMID:35421846

Published:2022-03-28

research field:肿瘤学精准医学药物耐药性癌症治疗学分子医学

Abstract

Alzheimer’s disease (AD) is a common neurodegenerative disease characterized by cognitive decline even leading to incapacity, which prevalence estimates that about 5% of AD cases are caused by mutations in genes such as Presenilin-1 ( PSEN1 ). Here we report the generation and characterization of an iPSC line derived from a patient carrying an E363Q mutation in PSEN1 gene. The iPSC line we generated presented a typical morphology, normal karyotype, free from Sendai viral vectors and exogenous factors, expressed endogenous pluripotency marker genes and proteins, which could form embryoid bodies in vitro and form teratoma in vivo as well, demonstrating its pluripotency.

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