Functional evaluation of rare OASL variants by analysis of SLE patient-derived iPSCs.

Bunki Natsumoto,Hirofumi Shoda,Yasuo Nagafuchi,Mineto Ota,Takashi Okumura,Yumi Horie,Tomohisa Okamura,Kazuhiko Yamamoto,Motonori Tsuji,Makoto Otsu,Hideki Taniguchi,Keishi Fujio

Journal of autoimmunity（2023）

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摘要

We established a patient-derived iPSC-based strategy to investigate the linkage of genotype and phenotype in autoimmune diseases. Detailed case-based investigations using patient-derived iPSCs provide information to unveil the heritability of the pathogenesis of autoimmune diseases.

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关键词

Systemic lupus erythematosus (SLE),Rare variant,Induced pluripotent stem cell (iPSC),Type 1 IFN,Interferon signature gene (ISG),2′-5′-oligoadenylate synthetase like (OASL),Retinoic acid-inducible gene-I (RIGI),Interferon induced with helicase C domain 1 (IFIH1),Dendritic cell (DC)

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