Article
Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells.
Odontology - 1 Jul 2022
Hamada Atsuko, Mukasa Hanae, Taguchi Yuki, Akagi Eri, Obayashi Fumitaka, Yamasaki Sachiko, Kanda Taku, Koizumi Koichi, Toratani Shigeaki, Okamoto Tetsuji
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal dominant hereditary disease associated with the gene RUNX2. Disease-specific induced pluripotent stem cells (iPSCs) have emerged as a useful resource to further study human hereditary diseases such as CCD. In this study, we identified a novel CCD-specific RUNX2 mutation and established iPSCs with this mutation. Biopsies were obtained from familial CCD patients and...
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