Work

Establishment of a human induced pluripotent stem cell line from a patient with familial hypercholesterolemia carrying a frameshift mutation in LDLR gene

Year: 2025

Type: article

Abstract: Familial hypercholesterolemia is an autosomal dominant genetic disorder that often leads to abnormally high cholesterol levels in the body, which is closely related to early-onset coronary heart disease. LDLR gene mutation is the most common cause of familial hypercholesterolemia. In this study, we established an induced pluripotent stem cell (iPSC) line from a familial hypercholesterolemia patient harboring the c.1883delT heterozygous mutation in LDLR gene using non-integrative Sendai virus. This cell line carried the LDLR frameshift mutation, expressed pluripotency markers, showed the normal karyotype (46XX) and maintained the ability to differentiate into the three germ layers in vitro.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103874

Authors: Yongjuan Ruan, Xiaowei Li, Jianzeng Dong, Youjian Zhang

Institutions: Henan Provincial Chest Hospital, First Affiliated Hospital of Zhengzhou University, Capital Medical University, Zhengzhou University, Beijing Anzhen Hospital

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360