Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome
Dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in SCN1A, with mutations being reported globally. In this study, we established 2 human induced pluripotent stem cell lines by expressing reprogramming factors, OCT3/4, SOX2, KLF4, L-MYC, LIN28 an...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120301586 |
| _version_ | 1818885003751194624 |
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| author | Yuichi Kimura Yasuyoshi Tanaka Naoto Shirasu Shin'ichiro Yasunaga Norimichi Higurashi Shinichi Hirose |
| author_facet | Yuichi Kimura Yasuyoshi Tanaka Naoto Shirasu Shin'ichiro Yasunaga Norimichi Higurashi Shinichi Hirose |
| author_sort | Yuichi Kimura |
| collection | DOAJ |
| description | Dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in SCN1A, with mutations being reported globally. In this study, we established 2 human induced pluripotent stem cell lines by expressing reprogramming factors, OCT3/4, SOX2, KLF4, L-MYC, LIN28 and p53 shRNA in the fibroblast skin cells of a patient with Dravet syndrome harboring the Y1102X pathogenic mutation in SCN1A. These cell lines showed pluripotency, ability for differentiation to the 3 germ layers, and normal karyotype. |
| first_indexed | 2024-12-19T15:58:32Z |
| format | Article |
| id | doaj.art-5b1abb0310234aae8903a4cd7522c93e |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-19T15:58:32Z |
| publishDate | 2020-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-5b1abb0310234aae8903a4cd7522c93e2022-12-21T20:15:00ZengElsevierStem Cell Research1873-50612020-08-0147101857Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndromeYuichi Kimura0Yasuyoshi Tanaka1Naoto Shirasu2Shin'ichiro Yasunaga3Norimichi Higurashi4Shinichi Hirose5Research Institute for the Molecular Pathomechanisms of Epilepsy, Central Research Organization, Fukuoka University, JapanResearch Institute for the Molecular Pathomechanisms of Epilepsy, Central Research Organization, Fukuoka University, JapanDepartment of Biochemistry, Faculty of Medicine, Fukuoka University, JapanDepartment of Biochemistry, Faculty of Medicine, Fukuoka University, JapanDepartment of Pediatrics, Jikei University School of Medicine, JapanResearch Institute for the Molecular Pathomechanisms of Epilepsy, Central Research Organization, Fukuoka University, Japan; Department of Pediatrics, Faculty of Medicine, Fukuoka University, Japan; Corresponding author at: Department of Pediatrics, Faculty of Medicine, Fukuoka University, Japan.Dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in SCN1A, with mutations being reported globally. In this study, we established 2 human induced pluripotent stem cell lines by expressing reprogramming factors, OCT3/4, SOX2, KLF4, L-MYC, LIN28 and p53 shRNA in the fibroblast skin cells of a patient with Dravet syndrome harboring the Y1102X pathogenic mutation in SCN1A. These cell lines showed pluripotency, ability for differentiation to the 3 germ layers, and normal karyotype.http://www.sciencedirect.com/science/article/pii/S1873506120301586 |
| spellingShingle | Yuichi Kimura Yasuyoshi Tanaka Naoto Shirasu Shin'ichiro Yasunaga Norimichi Higurashi Shinichi Hirose Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome Stem Cell Research |
| title | Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome |
| title_full | Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome |
| title_fullStr | Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome |
| title_full_unstemmed | Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome |
| title_short | Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome |
| title_sort | establishment of human induced pluripotent stem cells derived from skin cells of a patient with dravet syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120301586 |
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