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Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother.
Longobardi, Elena; Miceli, Francesco; Secondo, Agnese; Cicatiello, Rita; Izzo, Antonella; Tinto, Nadia; Moutton, Sebastien; Tran Mau-Them, Frédéric; Vitobello, Antonio; Taglialatela, Maurizio.
Afiliación
  • Longobardi E; Departments of Neuroscience and Molecular Medicine and Medical Biotechnology, University bf Naples "Federico II", Naples, Italy.
  • Miceli F; Departments of Neuroscience and Molecular Medicine and Medical Biotechnology, University bf Naples "Federico II", Naples, Italy.
  • Secondo A; Departments of Neuroscience and Molecular Medicine and Medical Biotechnology, University bf Naples "Federico II", Naples, Italy.
  • Cicatiello R; Departments of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
  • Izzo A; Departments of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
  • Tinto N; Departments of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy; CEINGE Advanced Biotechnology, Naples, Italy.
  • Moutton S; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
  • Tran Mau-Them F; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Taglialatela M; Departments of Neuroscience and Molecular Medicine and Medical Biotechnology, University bf Naples "Federico II", Naples, Italy.
Stem Cell Res ; 53: 102311, 2021 05.
Article en En | MEDLINE | ID: mdl-33799276
Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disability who carry a homozygous single-base duplication in exon 12 of KCNQ3 (NM_004519.3: KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15), and from a non-carrier brother of the proband. For iPSC generation, non-integrating episomal plasmid vectors were used to transfect fibroblasts isolated from skin biopsies. The obtained iPSC lines had a normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and possessed trilineage differentiation potential.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia / Células Madre Pluripotentes Inducidas / Discapacidad Intelectual Límite: Child / Female / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia / Células Madre Pluripotentes Inducidas / Discapacidad Intelectual Límite: Child / Female / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido