Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation
Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were repro...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-07-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122001489 |
| _version_ | 1811242268034596864 |
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| author | Tyson W. Lager Junjun Zuo Md Suhail Alam Barbara Calhoun Kasturi Haldar Athanasia D. Panopoulos |
| author_facet | Tyson W. Lager Junjun Zuo Md Suhail Alam Barbara Calhoun Kasturi Haldar Athanasia D. Panopoulos |
| author_sort | Tyson W. Lager |
| collection | DOAJ |
| description | Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers. |
| first_indexed | 2024-04-12T13:49:15Z |
| format | Article |
| id | doaj.art-4d1105d2578b4147b76cb7f03da6626e |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-12T13:49:15Z |
| publishDate | 2022-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-4d1105d2578b4147b76cb7f03da6626e2022-12-22T03:30:34ZengElsevierStem Cell Research1873-50612022-07-0162102799Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutationTyson W. Lager0Junjun Zuo1Md Suhail Alam2Barbara Calhoun3Kasturi Haldar4Athanasia D. Panopoulos5Department of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA; Center for Stem Cells and Regenerative Medicine, University of Notre Dame, Notre Dame, IN 46556, USADepartment of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA; Center for Stem Cells and Regenerative Medicine, University of Notre Dame, Notre Dame, IN 46556, USADepartment of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA; Boler-Parseghian Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, IN 46556, USADepartment of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA; Boler-Parseghian Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, IN 46556, USADepartment of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA; Boler-Parseghian Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, IN 46556, USA; Corresponding authors at: Department of Biological Sciences, University of Notre Dame, 100 Galvin Life Sciences, Notre Dame, IN 46556, USA.Department of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA; Center for Stem Cells and Regenerative Medicine, University of Notre Dame, Notre Dame, IN 46556, USA; Harper Cancer Research Institute, University of Notre Dame, Notre Dame, IN 46556, USA; Corresponding authors at: Department of Biological Sciences, University of Notre Dame, 100 Galvin Life Sciences, Notre Dame, IN 46556, USA.Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers.http://www.sciencedirect.com/science/article/pii/S1873506122001489 |
| spellingShingle | Tyson W. Lager Junjun Zuo Md Suhail Alam Barbara Calhoun Kasturi Haldar Athanasia D. Panopoulos Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation Stem Cell Research |
| title | Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation |
| title_full | Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation |
| title_fullStr | Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation |
| title_full_unstemmed | Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation |
| title_short | Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation |
| title_sort | generation of three induced pluripotent stem cell lines from a patient with kabuki syndrome carrying the kmt2d p r4198x mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122001489 |
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