PSEN1 E363Q突变阿尔茨海默病患者iPSC细胞系的生成与鉴定
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：分子生物学癌症生物学干细胞研究RNA生物学泛素信号传导表观遗传学
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.
本文使用的Yeasen产品
