Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.

Schuster, Jens; de Guidi, Claudia; Tripathi, Rekha; Klar, Joakim; Dahl, Niklas

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.

Schuster, Jens; de Guidi, Claudia; Tripathi, Rekha; Klar, Joakim; Dahl, Niklas.

Afiliación

Schuster J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 08 Uppsala, Sweden. Electronic address: jens.schuster@igp.uu.se.
de Guidi C; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 08 Uppsala, Sweden.
Tripathi R; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 08 Uppsala, Sweden.
Klar J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 08 Uppsala, Sweden.
Dahl N; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 08 Uppsala, Sweden. Electronic address: niklas.dahl@igp.uu.se.

Stem Cell Res ; 60: 102712, 2022 04.

Article en En | MEDLINE | ID: mdl-35203050

Asunto(s)

Epilepsias Mioclónicas; Células Madre Pluripotentes Inducidas; Cromosomas Humanos Par 2; Epilepsias Mioclónicas/genética; Síndromes Epilépticos; Humanos; Células Madre Pluripotentes Inducidas/metabolismo; Mutación; Canal de Sodio Activado por Voltaje NAV1.1/genética; Espasmos Infantiles

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2022 Tipo del documento: Article

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