論文

査読有り 国際誌
2020年5月21日

Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity in PTCH1.

Aging
  • Yu Ikemoto
  • ,
  • Toshiyuki Miyashita
  • ,
  • Michiyo Nasu
  • ,
  • Hiromi Hatsuse
  • ,
  • Kazuhiro Kajiwara
  • ,
  • Katsunori Fujii
  • ,
  • Toshino Motojima
  • ,
  • Ibuki Kokido
  • ,
  • Masashi Toyoda
  • ,
  • Akihiro Umezawa

12
10
開始ページ
9935
終了ページ
9947
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.18632/aging.103258
出版者・発行元
Impact Journals, LLC

Gorlin syndrome is a rare autosomal dominant hereditary disease with a high incidence of tumors such as basal cell carcinoma and medulloblastoma. Disease-specific induced pluripotent stem cells (iPSCs) and an animal model have been used to analyze disease pathogenesis. In this study, we generated iPSCs derived from fibroblasts of four patients with Gorlin syndrome (Gln-iPSCs) with heterozygous mutations of the PTCH1 gene. Gln-iPSCs from the four patients developed into medulloblastoma, a manifestation of Gorlin syndrome, in 100% (four out of four), of teratomas after implantation into immunodeficient mice, but none (0/584) of the other iPSC-teratomas did so. One of the medulloblastomas showed loss of heterozygosity in the PTCH1 gene while the benign teratoma, i.e. the non-medulloblastoma portion, did not, indicating a close clinical correlation between tumorigenesis in Gorlin syndrome patients and Gln-iPSCs.

リンク情報
DOI
https://doi.org/10.18632/aging.103258
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32436863
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288908
URL
http://www.aging-us.com/article/103258/text?_escaped_fragment_=

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