Generation of the induced pluripotent stem cell(iPSC) line (AHQUi001-A) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928 T > C) mutation in LPL gene.

Abstract

Familial hypertriglyceridemia (FHTG) is an autosomal dominant disorder of lipoprotein metabolism, partly caused by mutations in the LPL gene, which encodes for the lipoprotein lipase. LPL deficiency can impair triglyceride hydrolysis which causes elevated plasma triglyceride levels. An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 53 years-old male patient with FHTG who had a heterozygous p.C310R (c.928 T > C) mutation in the LPL gene based on the sendai virus delivery system. The cellular model will offer a powerful tool to investigate pathogenic mechanisms in FHTG and to develop a treatment for FHTG.

• Authors: Xiaofang Sun, Xiang Zhou, Xinhua Xiao, Jingwei Chi, Bingzi Dong, Yangang Wang
• Journal: Stem cell research (Stem Cell Res) Vol. 45 Pg. 101802 (05 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32353702 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Topics

• Heterozygote
• Humans
• Hyperlipoproteinemia Type IV
• Induced Pluripotent Stem Cells
• Leukocytes, Mononuclear
• Male
• Middle Aged
• Mutation (genetics)