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


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Sun X, Zhou X, Xiao X, Chi J, Dong B, Wang Y
Journal Stem cell research
Publication Date 2020 May;45:101802
PubMed 32353702
DOI 10.1016/j.scr.2020.101802

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