Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations
Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the fo...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003325 |
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| _version_ | 1841543975592263680 |
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| author | Elena F. Evans Guibin Chen Ivan Pavlinov Xiuli Huang Kaari Linask Chengyu Liu Alexander Rodriguez Lopez Melissa A. Gilbert Nancy B. Spinner Steven Rodemse Karsten Baumgärtele Catherine Z. Chen Jizhong Zou Wei Zheng |
| author_facet | Elena F. Evans Guibin Chen Ivan Pavlinov Xiuli Huang Kaari Linask Chengyu Liu Alexander Rodriguez Lopez Melissa A. Gilbert Nancy B. Spinner Steven Rodemse Karsten Baumgärtele Catherine Z. Chen Jizhong Zou Wei Zheng |
| author_sort | Elena F. Evans |
| collection | DOAJ |
| description | Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS. |
| format | Article |
| id | doaj-art-43e98f85e8ed401487270bd0b71d09d3 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-43e98f85e8ed401487270bd0b71d09d32025-01-13T04:18:41ZengElsevierStem Cell Research1873-50612025-02-0182103634Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutationsElena F. Evans0Guibin Chen1Ivan Pavlinov2Xiuli Huang3Kaari Linask4Chengyu Liu5Alexander Rodriguez Lopez6Melissa A. Gilbert7Nancy B. Spinner8Steven Rodemse9Karsten Baumgärtele10Catherine Z. Chen11Jizhong Zou12Wei Zheng13National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USAiPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USATransgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USADivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA, USADivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA, USATravere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USATravere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USAiPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Corresponding author.Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.http://www.sciencedirect.com/science/article/pii/S1873506124003325 |
| spellingShingle | Elena F. Evans Guibin Chen Ivan Pavlinov Xiuli Huang Kaari Linask Chengyu Liu Alexander Rodriguez Lopez Melissa A. Gilbert Nancy B. Spinner Steven Rodemse Karsten Baumgärtele Catherine Z. Chen Jizhong Zou Wei Zheng Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations Stem Cell Research |
| title | Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations |
| title_full | Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations |
| title_fullStr | Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations |
| title_full_unstemmed | Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations |
| title_short | Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations |
| title_sort | generation of induced pluripotent stem cell lines trndi037 a and trndi038 a from two patients with alagille syndrome carrying heterozygous jag1 mutations |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003325 |
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