Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations
Best Disease is an inherited retinal dystrophy that results in progressive and irreversible central vision loss caused by mutations of BESTROPHIN1 (BEST1). We established human induced pluripotent stem cells (iPSCs) from a Best disease patient with mutations R218H and A357V in the BEST1 gene. The ge...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120300842 |
| _version_ | 1818135851431886848 |
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| author | Kazuma Kamata Yuki Otsuka Keiko Imamura Akio Oishi Takayuki Kondo Mika Suga Ran Shibukawa Yasue Okanishi Yukako Sagara Kayko Tsukita Tsutomu Yasukawa Hideaki Usui Keiko Muguruma Akitaka Tsujikawa Haruhisa Inoue |
| author_facet | Kazuma Kamata Yuki Otsuka Keiko Imamura Akio Oishi Takayuki Kondo Mika Suga Ran Shibukawa Yasue Okanishi Yukako Sagara Kayko Tsukita Tsutomu Yasukawa Hideaki Usui Keiko Muguruma Akitaka Tsujikawa Haruhisa Inoue |
| author_sort | Kazuma Kamata |
| collection | DOAJ |
| description | Best Disease is an inherited retinal dystrophy that results in progressive and irreversible central vision loss caused by mutations of BESTROPHIN1 (BEST1). We established human induced pluripotent stem cells (iPSCs) from a Best disease patient with mutations R218H and A357V in the BEST1 gene. The generated iPSCs showed pluripotency markers and three-germ layer differentiation ability in vitro. A genetic analysis revealed mutations of R218H and A357V in the iPSCs. This iPSC line will be useful for elucidating the pathomechanisms of and drug discovery for Best disease. |
| first_indexed | 2024-12-11T09:31:05Z |
| format | Article |
| id | doaj.art-c1478b2fb27a4411b947a9e0ff7651d8 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-11T09:31:05Z |
| publishDate | 2020-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-c1478b2fb27a4411b947a9e0ff7651d82022-12-22T01:13:01ZengElsevierStem Cell Research1873-50612020-05-0145Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutationsKazuma Kamata0Yuki Otsuka1Keiko Imamura2Akio Oishi3Takayuki Kondo4Mika Suga5Ran Shibukawa6Yasue Okanishi7Yukako Sagara8Kayko Tsukita9Tsutomu Yasukawa10Hideaki Usui11Keiko Muguruma12Akitaka Tsujikawa13Haruhisa Inoue14iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, 606-8507, JapanDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, 606-8507, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, JapanDepartment of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, JapanDepartment of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, JapanLaboratory for Cell Asymmetry, RIKEN Center for Developmental Biology, Kobe, 650-0047, Japan; Department of iPS Cell Applied Medicine, Graduate School of Medicine, Kansai Medical University, Hirakata, 573-1010, JapanDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, JapaniPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Corresponding author.Best Disease is an inherited retinal dystrophy that results in progressive and irreversible central vision loss caused by mutations of BESTROPHIN1 (BEST1). We established human induced pluripotent stem cells (iPSCs) from a Best disease patient with mutations R218H and A357V in the BEST1 gene. The generated iPSCs showed pluripotency markers and three-germ layer differentiation ability in vitro. A genetic analysis revealed mutations of R218H and A357V in the iPSCs. This iPSC line will be useful for elucidating the pathomechanisms of and drug discovery for Best disease.http://www.sciencedirect.com/science/article/pii/S1873506120300842 |
| spellingShingle | Kazuma Kamata Yuki Otsuka Keiko Imamura Akio Oishi Takayuki Kondo Mika Suga Ran Shibukawa Yasue Okanishi Yukako Sagara Kayko Tsukita Tsutomu Yasukawa Hideaki Usui Keiko Muguruma Akitaka Tsujikawa Haruhisa Inoue Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations Stem Cell Research |
| title | Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations |
| title_full | Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations |
| title_fullStr | Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations |
| title_full_unstemmed | Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations |
| title_short | Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations |
| title_sort | generation of a human induced pluripotent stem cell line brci005 a derived from a best disease patient with best1 mutations |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120300842 |
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