Generation of a gene-corrected isogenic iPSC line (AHQUi001-A-1) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928 T > C) mutation in LPL gene using CRISPR/Cas9
Summary
Mutations in the LPL gene lead to familial hypertriglyceridemia (FHTG) . We have previously generated an iPSC line (AHQUi001-A) from a FHTG patient with a heterozygous p.C310R (c.928 T > C) mutation in the LPL gene. Here we genetically corrected the C310R mutation in the LPL gene using CRISPR/Cas9 technology to generate AHQUi001-A-1, which demonstrates normal karyotype, morphology, pluripotency, and potential to differentiate towards three germ layers. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Sun X, Zhou X, Dong B, Wang C, Xiao X, Wang Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Apr;52:102230 |
| PubMed | 33592566 |
| DOI | 10.1016/j.scr.2021.102230 |