A novel GNAS-mutated human induced pluripotent stem cell model for understanding GNAS-mutated tumors

Katsuhito Watanabe, Takashi Nakamura, Shoko Onodera, Akiko Saito, Takahiko Shibahara & Toshifumi Azuma
A missense mutation of the guanine nucleotide binding protein alpha stimulating activity polypeptide 1 (GNAS) gene, typically Arg201Cys or Arg201His (R201H/R201C), leads to constitutive activation of the Gsα-cyclic AMP (cAMP) signaling pathway that causes several diseases. However, no germline mutations of GNAS have been identified to date, likely due to their lethality, and no robust human cell models have been generated. Therefore, the aim of this study was to generate GNAS-mutated disease-specific induced pluripotent stem...
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