Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene
A 48-year-old female epilepsy patient of Han Chinese genetic descent carrying heterozygous mutations in PIK3R2 donated her peripheral blood mononuclear cells (PBMCs). The PBMCs were reprogrammed by the nonintegrating vector system with human OKSM transcription factors. The generated iPSCs contained...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120300131 |
| _version_ | 1818290148467539968 |
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| author | Bei Zhang Yishu Wang Jing Peng Yong Hao Yangtai Guan |
| author_facet | Bei Zhang Yishu Wang Jing Peng Yong Hao Yangtai Guan |
| author_sort | Bei Zhang |
| collection | DOAJ |
| description | A 48-year-old female epilepsy patient of Han Chinese genetic descent carrying heterozygous mutations in PIK3R2 donated her peripheral blood mononuclear cells (PBMCs). The PBMCs were reprogrammed by the nonintegrating vector system with human OKSM transcription factors. The generated iPSCs contained congenital mutations in an exon of PIK3R2 and expressed endogenous pluripotency markers. They had a normal karyotype and were able to differentiate into all three germ layers. This new iPSC line will contribute to a better understanding of the pathology of epilepsy, enabling the identification of early biomarkers and the screening of small molecule drugs. |
| first_indexed | 2024-12-13T02:23:34Z |
| format | Article |
| id | doaj.art-fa7ae6e2b05f489f9533ecdd017d5031 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-13T02:23:34Z |
| publishDate | 2020-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-fa7ae6e2b05f489f9533ecdd017d50312022-12-22T00:02:42ZengElsevierStem Cell Research1873-50612020-04-0144Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 geneBei Zhang0Yishu Wang1Jing Peng2Yong Hao3Yangtai Guan4Department of Neurology, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 20072, PR ChinaDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 20072, PR ChinaDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 20072, PR ChinaCorresponding author.; Department of Neurology, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 20072, PR ChinaCorresponding author.; Department of Neurology, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 20072, PR ChinaA 48-year-old female epilepsy patient of Han Chinese genetic descent carrying heterozygous mutations in PIK3R2 donated her peripheral blood mononuclear cells (PBMCs). The PBMCs were reprogrammed by the nonintegrating vector system with human OKSM transcription factors. The generated iPSCs contained congenital mutations in an exon of PIK3R2 and expressed endogenous pluripotency markers. They had a normal karyotype and were able to differentiate into all three germ layers. This new iPSC line will contribute to a better understanding of the pathology of epilepsy, enabling the identification of early biomarkers and the screening of small molecule drugs.http://www.sciencedirect.com/science/article/pii/S1873506120300131 |
| spellingShingle | Bei Zhang Yishu Wang Jing Peng Yong Hao Yangtai Guan Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene Stem Cell Research |
| title | Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene |
| title_full | Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene |
| title_fullStr | Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene |
| title_full_unstemmed | Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene |
| title_short | Generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the PIK3R2 gene |
| title_sort | generation of a human induced pluripotent stem cell line from an epilepsy patient carrying mutations in the pik3r2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120300131 |
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