An integration-free iPSC line ZZUNEUi029-A derived from peripheral blood mononuclear cells of a patient with familial hypercholesterolemia carrying a mutation in LDLR gene

Stem Cell Res. 2023 Sep:71:103182. doi: 10.1016/j.scr.2023.103182. Epub 2023 Aug 10.

Abstract

Familial hypercholesterolemia is a hereditary disorder that causes severely elevated low-density lipoprotein levels, which can lead to an increased risk for premature cardiovascular disease. Mutations in the LDLR gene are the most common cause of familial hypercholesterolemia. In this study, we report the generation of ZZUNEUi029-A, a human induced pluripotent stem cell line (hiPSC) from a male patient with c. 622 G → A in LDLR gene using non-integrative Sendai viral reprogramming technology. This cell line expressed pluripotency markers, had a normal male karyotype (46XY) and maintained the ability to differentiate into the three germ layers in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation / genetics
  • Cellular Reprogramming
  • Humans
  • Hyperlipoproteinemia Type II* / genetics
  • Hyperlipoproteinemia Type II* / metabolism
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Mutation / genetics