Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR


The development of cellular models for familial hypercholesterolemia (FH) is an important direction for creating new approaches to atherosclerosis treatment. Pathogenic mutations in the LDLR gene are the main FH source. We generated an iPSC line from peripheral blood mononuclear cells of the patient with compound heterozygous c.1246C > T/c.940 + 3_940 + 6del LDLR mutation. The resulting iPSC line with confirmed patient-specific mutations maintains a normal karyotype and a typical undifferentiated state, including morphology, pluripotent gene expression, and in vitro differentiation potential. This iPSC line can be further differentiated toward relevant cells to better understand FH pathogenesis. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zakharova IS, Shevchenko AI, Tmoyan NA, Elisaphenko EA, Zubkova ES, Sleptcov AA, Nazarenko MS, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM
Journal Stem cell research
Publication Date 2022 Apr;60:102702
PubMed 35152178
DOI 10.1016/j.scr.2022.102702

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