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Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy.
Kamand, Morad; Taleb, Reema; Wathikthinnakon, Methi; Mohamed, Fadumo Abdullahi; Ghazanfari, Said Pasalar; Konstantinov, Denis; Hald, Jonas Laugård; Holst, Bjørn; Brasch-Andersen, Charlotte; Møller, Rikke S; Lemke, Johannes R; Krey, Ilona; Freude, Kristine; Chandrasekaran, Abinaya.
Affiliation
  • Kamand M; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Regional Health Research,
  • Taleb R; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark.
  • Wathikthinnakon M; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark.
  • Mohamed FA; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark.
  • Ghazanfari SP; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark.
  • Konstantinov D; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark; Novo Nordisk Foundation Center for Biosustainability (DTU Biosustain) at the Technical University of Denmark, Denmark.
  • Hald JL; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark.
  • Holst B; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark.
  • Brasch-Andersen C; Department of Clinical Genetics Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Human Genetics, University of Southern Denmark, Odense, Denmark.
  • Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
  • Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
  • Freude K; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark.
  • Chandrasekaran A; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg 1870, Denmark. Electronic address: Abinaya.chandrasekaran@sund.ku.dk.
Stem Cell Res ; 76: 103372, 2024 Apr.
Article in En | MEDLINE | ID: mdl-38458029
ABSTRACT
Developmental and epileptic encephalopathies (DEEs) are early-onset conditions that cause intractable seizures and developmental delays. Missense variants in Gamma-aminobutyric acid type A receptor (GABAAR) subunits commonly cause DEEs. Ahring et al. (2022) showed a variant in the gene that encodes the delta subunit (GABRD) is strongly associated with the gain-of-function of extrasynaptic GABAAR. Here, we report the generation of two patient-specific human induced pluripotent stem cells (hiPSC) lines with (i) a de novo variant and (ii) a maternal variant, both for the pathogenic GABRD c.872 C>T, (p.T291I). The variants in the generated cell line were corrected using the CRISPR-Cas9 gene editing technique (respective isogenic control lines).
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Country of publication: United kingdom