Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene
Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a one-year-old boy with Alagille syndrome carrying a heterozygous mutation c.234C > A (p.C78X) i...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-09-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125001382 |
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| author | Bin Wang Wei Song |
| author_facet | Bin Wang Wei Song |
| author_sort | Bin Wang |
| collection | DOAJ |
| description | Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a one-year-old boy with Alagille syndrome carrying a heterozygous mutation c.234C > A (p.C78X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, exhibited differentiation potential, have normal karyotype and harbored the same mutations found in the patient. This human induced pluripotent stem cell line can be used for in vitro disease modeling and therapy testing. |
| format | Article |
| id | doaj-art-dcfc19f1af8749c7a33350e1c056ead2 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-dcfc19f1af8749c7a33350e1c056ead22025-08-20T03:42:34ZengElsevierStem Cell Research1873-50612025-09-018710378810.1016/j.scr.2025.103788Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 geneBin Wang0Wei Song1First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355 Shandong, China; Tumor Minimally Invasive Comprehensive Treatment Department, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji’nan 250021, China; Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, ChinaFirst School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355 Shandong, China; Tumor Minimally Invasive Comprehensive Treatment Department, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji’nan 250021, China; Corresponding author at: First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355, Shandong, China.Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a one-year-old boy with Alagille syndrome carrying a heterozygous mutation c.234C > A (p.C78X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, exhibited differentiation potential, have normal karyotype and harbored the same mutations found in the patient. This human induced pluripotent stem cell line can be used for in vitro disease modeling and therapy testing.http://www.sciencedirect.com/science/article/pii/S1873506125001382 |
| spellingShingle | Bin Wang Wei Song Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene Stem Cell Research |
| title | Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene |
| title_full | Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene |
| title_fullStr | Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene |
| title_full_unstemmed | Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene |
| title_short | Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene |
| title_sort | establishment of a human induced pluripotent stem cell line from a patient with alagille syndrome carrying heterozygous mutation in jag1 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125001382 |
| work_keys_str_mv | AT binwang establishmentofahumaninducedpluripotentstemcelllinefromapatientwithalagillesyndromecarryingheterozygousmutationinjag1gene AT weisong establishmentofahumaninducedpluripotentstemcelllinefromapatientwithalagillesyndromecarryingheterozygousmutationinjag1gene |