共通の遺伝的変異がヒト iPSC の分子異質性を駆動する
Helena Kilpinen1, Angela Goncalves2, Andreas Leha2
1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Nature
|May 11, 2017
まとめ
人間の誘発性多能幹細胞 (iPS細胞) は 強力な疾患モデルを提供します この研究は711のiPS細胞系を特徴づけ,研究および治療用途に不可欠な遺伝的および現象的変異を明らかにした.
科学分野:
- 幹細胞生物学
- ゲノミクス
- 人間遺伝学
背景:
- 人間の誘発性多能幹細胞 (iPS細胞) は病気のモデル化に有望である.
- iPS細胞系統の遺伝的および現象的特徴が限られているため,研究と治療の可能性が妨げられます.
研究 の 目的:
- 301人の健康な個体から 711のiPS細胞系を系統的に生成する.
- iPS細胞の遺伝的および現象的変異の源を特定する.
- ヒトの特徴と癌のモデルとしてiPS細胞の適性を評価する.
主な方法:
- 301人の健康な個体から 711個のiPS細胞系を生成する.
- すべての生成されたiPS細胞の系統的な遺伝子型とフェノタイプ化.
- iPS細胞のフェノタイプとトランスクリプトームの変化を分析するための全ゲノムプロファイリング.
主要な成果:
- 711のiPS細胞系を特徴づけ,遺伝的および現象的変異を詳細に記述した.
- iPS細胞のフェノタイプ変異に5~46%貢献する個別の遺伝的差異を定量化した.
- 複製数の変化の現象的影響を評価し,多能細胞トランスクリプトームに影響を与える規制変異をマッピングした.
結論:
- 複雑なヒトの特徴と癌のモデルとしてiPS細胞の適性を確立した.
- iPS細胞のフェノタイプにおける個体間遺伝的多様性の重要な役割を強調した.
- ヒトの多能幹細胞における遺伝的および現象的多様性を理解するための包括的なリソースを提供した.
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