诱导多能干细胞
生物
低密度脂蛋白受体
家族性高胆固醇血症
细胞培养
癌症研究
干细胞
胆固醇
低密度脂蛋白
脂蛋白
人诱导多能干细胞
内分泌学
基因
细胞生物学
遗传学
内科学
胚胎干细胞
医学
作者
Zijuan Qi,Yazhou Cui,Liang Shi,Jing Wang,Qingyang Zhao,Jing Luan,Jinxiang Han
标识
DOI:10.1016/j.scr.2021.102624
摘要
Familial hypercholesterolemia (FH; OMIM: # 143890) is a common inherited autosomal dominant disease, characterized by high-level low-density lipoprotein cholesterol (LDL-C) in plasma. Elevated LDL-C levels is closely related with atherosclerotic plaques and premature cardiovascular disease if not treated in time. Here we generated an induced pluripotent stem cell (iPSC) line using urine cells (UCs) derived from an 8-year-old male FH patient who carrying two coding and pathogenic mutations of low-density lipoprotein receptor (LDLR) gene (exon12:c.C1747T and exon13: c. 1948 del G). This induced pluripotent stem cell line named SMBCi009-A can be used to understand more cellular details about FH.
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