Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene
Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using len...
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| Format: | Article |
| Language: | English |
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Elsevier
2017-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506116302227 |
| _version_ | 1811197691385872384 |
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| author | Lise Bols Toustrup Yan Zhou Helene Kvistgaard Niels Gregersen Søren Rittig Lars Aagaard Thomas Juhl Corydon Yonglun Luo Jane H. Christensen |
| author_facet | Lise Bols Toustrup Yan Zhou Helene Kvistgaard Niels Gregersen Søren Rittig Lars Aagaard Thomas Juhl Corydon Yonglun Luo Jane H. Christensen |
| author_sort | Lise Bols Toustrup |
| collection | DOAJ |
| description | Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts. This iPSC line is useful in future studies focusing on the pathogenesis of adFNDI. |
| first_indexed | 2024-04-12T01:18:40Z |
| format | Article |
| id | doaj.art-5ced2f43fe4c49b28bfe1a2e265051eb |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-12T01:18:40Z |
| publishDate | 2017-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-5ced2f43fe4c49b28bfe1a2e265051eb2022-12-22T03:53:52ZengElsevierStem Cell Research1873-50612017-03-0119374210.1016/j.scr.2016.12.021Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP geneLise Bols Toustrup0Yan Zhou1Helene Kvistgaard2Niels Gregersen3Søren Rittig4Lars Aagaard5Thomas Juhl Corydon6Yonglun Luo7Jane H. Christensen8Department of Paediatrics, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200 Aarhus N, DenmarkDepartment of Biomedicine, Aarhus University, Bartholins Allé 6, 8000 Aarhus C, DenmarkDepartment of Paediatrics, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200 Aarhus N, DenmarkResearch Unit for Molecular Medicine, Aarhus University Hospital, Oluf Palmes Allé 49, 8200 Aarhus N, DenmarkDepartment of Paediatrics, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200 Aarhus N, DenmarkDepartment of Biomedicine, Aarhus University, Bartholins Allé 6, 8000 Aarhus C, DenmarkDepartment of Biomedicine, Aarhus University, Bartholins Allé 6, 8000 Aarhus C, DenmarkDepartment of Biomedicine, Aarhus University, Bartholins Allé 6, 8000 Aarhus C, Denmark; Corresponding author.Department of Biomedicine, Aarhus University, Bartholins Allé 6, 8000 Aarhus C, DenmarkAutosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts. This iPSC line is useful in future studies focusing on the pathogenesis of adFNDI.http://www.sciencedirect.com/science/article/pii/S1873506116302227 |
| spellingShingle | Lise Bols Toustrup Yan Zhou Helene Kvistgaard Niels Gregersen Søren Rittig Lars Aagaard Thomas Juhl Corydon Yonglun Luo Jane H. Christensen Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene Stem Cell Research |
| title | Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene |
| title_full | Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene |
| title_fullStr | Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene |
| title_full_unstemmed | Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene |
| title_short | Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene |
| title_sort | induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the avp gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506116302227 |
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