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.

Autor:	Zakharova IS; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia. Electronic address: zakharova@bionet.nsc.ru., Shevchenko AI; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia., Tmoyan NA; National Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, Moscow., Elisaphenko EA; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia., Zubkova ES; National Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, Moscow., Sleptcov AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, Russia., Nazarenko MS; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, Russia., Ezhov MV; National Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, Moscow., Kukharchuk VV; National Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, Moscow., Parfyonova YV; National Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, Moscow., Zakian SM; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2022 Apr; Vol. 60, pp. 102702. Date of Electronic Publication: 2022 Feb 06.
DOI:	10.1016/j.scr.2022.102702
Abstrakt:	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.)
Databáze:	MEDLINE
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