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Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Yang, Xiaomeng; Yan, Beibei; Zhang, Haiyan; Ma, Yanyan; Zhou, Qi; Li, Yue; Guan, Jingyun; Wang, Dong; Liu, Yi; Gai, Zhongtao.
Afiliación
  • Yang X; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Yan B; Neonatology Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Zhang H; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Ma Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Zhou Q; Neonatology Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Li Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Guan J; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Wang D; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • Liu Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.
  • Gai Z; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Stem Cell Res ; 43: 101704, 2020 03.
Article en En | MEDLINE | ID: mdl-32014801
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original 47,XXY, and mutation in OTC, expressing pluripotency markers and bearing differentiation potential in vitro.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa / Células Madre Pluripotentes Inducidas / Síndrome de Klinefelter Límite: Humans / Infant / Male Idioma: En Revista: Stem Cell Res Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa / Células Madre Pluripotentes Inducidas / Síndrome de Klinefelter Límite: Humans / Infant / Male Idioma: En Revista: Stem Cell Res Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido