Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT

被引：0
|
作者：
Cai, Huimin
Pang, Yana
Jia, Longfei [1 ,2 ]
机构：
[1] Innovat Ctr Neurol Disorders, 45 Changchun St, Beijing 100000, Peoples R China
[2] Capital Med Univ, Xuanwu Hosp, Natl Clin Res Ctr Geriatr Dis, Dept Neurol, 45 Changchun St, Beijing 100000, Peoples R China
来源：
STEM CELL RESEARCH | 2022年 / 59卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2022.102654
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Frontotemporal dementia (FTD) caused by microtubule-associated protein tau (MAPT) mutations is not rare and is almost fully penetrant. However, no disease modifying treatment for FTD is currently available. Here, we demonstrated the establishment and characterization of a novel human induced pluripotent stem cell (iPSC) line ICNDXHi001-A from a patient with FTD carrying genetic variant MAPT c.796C > G (p.L266V). The generated cell line showed trilineage differentiation potential, expression of pluripotency markers, a normal karyotype, and retention of MAPT mutation. The study provides a useful model to further elucidate the underlying mechanisms of FTD and to facilitate novel therapy development.
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