Stem Cell Res. 2025 Nov 18;89:103874. doi: 10.1016/j.scr.2025.103874. Online ahead of print.
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.
PMID:41273804 | DOI:10.1016/j.scr.2025.103874