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Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S).
Chen, Zilin; Lv, Hui; Yu, Juehua; Fang, Shuanfeng; Li, Fei.
Afiliación
  • Chen Z; Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medic
  • Lv H; Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medic
  • Yu J; Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medic
  • Fang S; Department of Child Health Care, Children's Hospital Affiliated to Zhengzhou University, City Zhengzhou, China. Electronic address: fangshuanfeng@126.com.
  • Li F; Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medic
Stem Cell Res ; 61: 102756, 2022 05.
Article en En | MEDLINE | ID: mdl-35358829
Mutations in the HDAC8 are considered to be a prominent cause of Cornelia de Lange syndrome 5, a leading cause of intellectual disability and social disability. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a 5-year-old girl diagnosed with autism spectrum disorder (ASD) who carries a heterozygous mutation in HDAC8 (c.1075C > T, p.Pro359Ser).
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange / Células Madre Pluripotentes Inducidas / Trastorno del Espectro Autista Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Stem Cell Res Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange / Células Madre Pluripotentes Inducidas / Trastorno del Espectro Autista Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Stem Cell Res Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido