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Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations.
Kamata, Kazuma; Otsuka, Yuki; Imamura, Keiko; Oishi, Akio; Kondo, Takayuki; Suga, Mika; Shibukawa, Ran; Okanishi, Yasue; Sagara, Yukako; Tsukita, Kayko; Yasukawa, Tsutomu; Usui, Hideaki; Muguruma, Keiko; Tsujikawa, Akitaka; Inoue, Haruhisa.
Afiliação
  • Kamata K; iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
  • Otsuka Y; iPSC-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.
  • Imamura K; iPSC-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,
  • Oishi A; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Kondo T; iPSC-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,
  • Suga M; iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Shibukawa R; iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Okanishi Y; iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
  • Sagara Y; iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
  • Tsukita K; iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Yasukawa T; Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Usui H; Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Muguruma K; Laboratory 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, Japan.
  • Tsujikawa A; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Inoue H; iPSC-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. Electroni
Stem Cell Res ; 45: 101782, 2020 05.
Article em En | MEDLINE | ID: mdl-32416576
ABSTRACT
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Distrofia Macular Viteliforme Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Distrofia Macular Viteliforme Idioma: En Ano de publicação: 2020 Tipo de documento: Article