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A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders.
Detera-Wadleigh, Sevilla D; Kassem, Layla; Besancon, Emily; Lopes, Fabiana; Akula, Nirmala; Sung, Heejong; Blattner, Meghan; Sheridan, Laura; Lacbawan, Ley Nadine; Garcia, Joshua; Gordovez, Francis; Hosey, Katherine; Donner, Cassandra; Salvini, Claudio; Schulze, Thomas; Chen, David T W; England, Bryce; Cross, Joanna; Jiang, Xueying; Corona, Winston; Russ, Jill; Mallon, Barbara; Dutra, Amalia; Pak, Evgenia; Steiner, Joe; Malik, Nasir; de Guzman, Theresa; Horato, Natia; Mallmann, Mariana B; Mendes, Victoria; Duck, Amanda L; Nardi, Antonio E; McMahon, Francis J.
Afiliação
  • Detera-Wadleigh SD; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA. deteras@mail.nih.gov.
  • Kassem L; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA. layla.kassem@nih.gov.
  • Besancon E; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Lopes F; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Akula N; Laboratorio de Panico e Respiracao, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 22410-003, Brazil.
  • Sung H; Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, Providence, RI, 02903, USA.
  • Blattner M; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Sheridan L; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Lacbawan LN; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Garcia J; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Gordovez F; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Hosey K; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Donner C; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Salvini C; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Schulze T; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Chen DTW; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • England B; Laboratorio de Panico e Respiracao, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 22410-003, Brazil.
  • Cross J; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Jiang X; Institute of Psychiatric Phenomics and Genomics, LMU Munich, 80336, München, Germany.
  • Corona W; Department of Psychiatry and Behavioral Sciences, Upstate University Hospital, Syracuse, NY, 13210, USA.
  • Russ J; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, 21287, USA.
  • Mallon B; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Dutra A; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Pak E; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Steiner J; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Malik N; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • de Guzman T; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
  • Horato N; Center for Scientific Review, Neurotechnology and Vision Branch, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Mallmann MB; Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Mendes V; Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Duck AL; Neurotherapeutics Development Unit, NINDS, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Nardi AE; Neurotherapeutics Development Unit, NINDS, National Institutes of Health, Bethesda, MD, 20892, USA.
  • McMahon FJ; Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
Transl Psychiatry ; 13(1): 397, 2023 Dec 16.
Article em En | MEDLINE | ID: mdl-38104115
ABSTRACT
Genome-wide (GWAS) and copy number variant (CNV) association studies have reproducibly identified numerous risk alleles associated with bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ), but biological characterization of these alleles lags gene discovery, owing to the inaccessibility of live human brain cells and inadequate animal models for human psychiatric conditions. Human-derived induced pluripotent stem cells (iPSCs) provide a renewable cellular reagent that can be differentiated into living, disease-relevant cells and 3D brain organoids carrying the full complement of genetic variants present in the donor germline. Experimental studies of iPSC-derived cells allow functional characterization of risk alleles, establishment of causal relationships between genes and neurobiology, and screening for novel therapeutics. Here we report the creation and availability of an iPSC resource comprising clinical, genomic, and cellular data obtained from genetically isolated families with BD and related conditions. Results from the first 324 study participants, 61 of whom have validated pluripotent clones, show enrichment of rare single nucleotide variants and CNVs overlapping many known risk genes and pathogenic CNVs. This growing iPSC resource is available to scientists pursuing functional genomic studies of BD and related conditions.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Psicóticos / Esquizofrenia / Transtorno Depressivo Maior / Células-Tronco Pluripotentes Induzidas Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Psicóticos / Esquizofrenia / Transtorno Depressivo Maior / Células-Tronco Pluripotentes Induzidas Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article