Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C)
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies which are often caused by genetic mutations in ion channels. Mutations in KCNQ2, which encodes the voltage-gated potassium channel Kv7.2, is known to cause DEE. Here, we generated three iPSC lines from...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-09-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123001770 |
| _version_ | 1797692076606881792 |
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| author | Rachel Stewart Cloe Gadoud Janusz Krawczyk Veronica McInerney Timothy O'Brien Sanbing Shen Nicholas M. Allen |
| author_facet | Rachel Stewart Cloe Gadoud Janusz Krawczyk Veronica McInerney Timothy O'Brien Sanbing Shen Nicholas M. Allen |
| author_sort | Rachel Stewart |
| collection | DOAJ |
| description | Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies which are often caused by genetic mutations in ion channels. Mutations in KCNQ2, which encodes the voltage-gated potassium channel Kv7.2, is known to cause DEE. Here, we generated three iPSC lines from dermal fibroblasts of a 5 year-old male patient with the KCNQ2 c.881C > T (p.Ala294Val) pathogenic heterozygous variant and three iPSC lines from a healthy sibling control. These iPSC lines have been validated by SNP karyotyping, STR analysis, expression of pluripotent genes, the capacity to differentiate into three germ layers and confirmation of the mutation in the patient. |
| first_indexed | 2024-03-12T02:22:29Z |
| format | Article |
| id | doaj.art-c843549925a3460ca7b012215f787562 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-12T02:22:29Z |
| publishDate | 2023-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-c843549925a3460ca7b012215f7875622023-09-06T04:50:58ZengElsevierStem Cell Research1873-50612023-09-0171103191Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C)Rachel Stewart0Cloe Gadoud1Janusz Krawczyk2Veronica McInerney3Timothy O'Brien4Sanbing Shen5Nicholas M. Allen6Regenerative Medicine Institute, School of Medicine, University of Galway, Ireland; Department of Paediatrics, School of Medicine, University of Galway, Ireland; Corresponding author.Regenerative Medicine Institute, School of Medicine, University of Galway, IrelandDepartment of Haematology, Galway University Hospital, IrelandHRB Clinical Research Facility, University of Galway, IrelandRegenerative Medicine Institute, School of Medicine, University of Galway, Ireland; Confucius Institute of Chinese and Regenerative Medicine, University of Galway, IrelandRegenerative Medicine Institute, School of Medicine, University of Galway, Ireland; FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland; Confucius Institute of Chinese and Regenerative Medicine, University of Galway, IrelandDepartment of Paediatrics, School of Medicine, University of Galway, IrelandDevelopmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies which are often caused by genetic mutations in ion channels. Mutations in KCNQ2, which encodes the voltage-gated potassium channel Kv7.2, is known to cause DEE. Here, we generated three iPSC lines from dermal fibroblasts of a 5 year-old male patient with the KCNQ2 c.881C > T (p.Ala294Val) pathogenic heterozygous variant and three iPSC lines from a healthy sibling control. These iPSC lines have been validated by SNP karyotyping, STR analysis, expression of pluripotent genes, the capacity to differentiate into three germ layers and confirmation of the mutation in the patient.http://www.sciencedirect.com/science/article/pii/S1873506123001770 |
| spellingShingle | Rachel Stewart Cloe Gadoud Janusz Krawczyk Veronica McInerney Timothy O'Brien Sanbing Shen Nicholas M. Allen Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C) Stem Cell Research |
| title | Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C) |
| title_full | Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C) |
| title_fullStr | Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C) |
| title_full_unstemmed | Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C) |
| title_short | Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C) |
| title_sort | generation of three induced pluripotent stem cell lines from a patient with kcnq2 developmental and epileptic encephalopathy as a result of the pathogenic variant c 881c t p ala294val nuigi059 a nuigi059 b nuigi059 c and 3 healthy controls nuigi060 a nuigi060 b nuigi060 c |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123001770 |
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