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...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122000514 |
| _version_ | 1818992489770516480 |
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| author | Irina S. Zakharova Alexander I. Shevchenko Narek A. Tmoyan Eugeny A. Elisaphenko Ekaterina S. Zubkova Aleksei A. Sleptcov Maria S. Nazarenko Marat V. Ezhov Valery V. Kukharchuk Yelena V. Parfyonova Suren M. Zakian |
| author_facet | Irina S. Zakharova Alexander I. Shevchenko Narek A. Tmoyan Eugeny A. Elisaphenko Ekaterina S. Zubkova Aleksei A. Sleptcov Maria S. Nazarenko Marat V. Ezhov Valery V. Kukharchuk Yelena V. Parfyonova Suren M. Zakian |
| author_sort | Irina S. Zakharova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T20:26:59Z |
| format | Article |
| id | doaj.art-9ce40e3c957e4fa490098316d4c73f75 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-20T20:26:59Z |
| publishDate | 2022-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-9ce40e3c957e4fa490098316d4c73f752022-12-21T19:27:27ZengElsevierStem Cell Research1873-50612022-04-0160102702Induced 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 LDLRIrina S. Zakharova0Alexander I. Shevchenko1Narek A. Tmoyan2Eugeny A. Elisaphenko3Ekaterina S. Zubkova4Aleksei A. Sleptcov5Maria S. Nazarenko6Marat V. Ezhov7Valery V. Kukharchuk8Yelena V. Parfyonova9Suren M. Zakian10Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Corresponding author.Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, RussiaNational Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, MoscowInstitute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, RussiaNational Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, MoscowResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, RussiaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, RussiaNational Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, MoscowNational Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, MoscowNational Medical Research Center of Cardiology, Ministry of Health of the Russian Federation, MoscowInstitute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, RussiaThe 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.http://www.sciencedirect.com/science/article/pii/S1873506122000514 |
| spellingShingle | Irina S. Zakharova Alexander I. Shevchenko Narek A. Tmoyan Eugeny A. Elisaphenko Ekaterina S. Zubkova Aleksei A. Sleptcov Maria S. Nazarenko Marat V. Ezhov Valery V. Kukharchuk Yelena V. Parfyonova Suren M. Zakian 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 Stem Cell Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122000514 |
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