Translational Psychiatry (Dec 2023)
A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders
- Sevilla D. Detera-Wadleigh,
- Layla Kassem,
- Emily Besancon,
- Fabiana Lopes,
- Nirmala Akula,
- Heejong Sung,
- Meghan Blattner,
- Laura Sheridan,
- Ley Nadine Lacbawan,
- Joshua Garcia,
- Francis Gordovez,
- Katherine Hosey,
- Cassandra Donner,
- Claudio Salvini,
- Thomas Schulze,
- David T. W. Chen,
- Bryce England,
- Joanna Cross,
- Xueying Jiang,
- Winston Corona,
- Jill Russ,
- Barbara Mallon,
- Amalia Dutra,
- Evgenia Pak,
- Joe Steiner,
- Nasir Malik,
- Theresa de Guzman,
- Natia Horato,
- Mariana B. Mallmann,
- Victoria Mendes,
- Amanda L. Dűck,
- Antonio E. Nardi,
- Francis J. McMahon
Affiliations
- Sevilla D. Detera-Wadleigh
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Layla Kassem
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Emily Besancon
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Fabiana Lopes
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Nirmala Akula
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Heejong Sung
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Meghan Blattner
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Laura Sheridan
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Ley Nadine Lacbawan
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Joshua Garcia
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Francis Gordovez
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Katherine Hosey
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Cassandra Donner
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Claudio Salvini
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Thomas Schulze
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- David T. W. Chen
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Bryce England
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Joanna Cross
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Xueying Jiang
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Winston Corona
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Jill Russ
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Barbara Mallon
- Center for Scientific Review, Neurotechnology and Vision Branch, National Institutes of Health
- Amalia Dutra
- Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health
- Evgenia Pak
- Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health
- Joe Steiner
- Neurotherapeutics Development Unit, NINDS, National Institutes of Health
- Nasir Malik
- Neurotherapeutics Development Unit, NINDS, National Institutes of Health
- Theresa de Guzman
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- Natia Horato
- Laboratorio de Panico e Respiracao, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro
- Mariana B. Mallmann
- Laboratorio de Panico e Respiracao, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro
- Victoria Mendes
- Laboratorio de Panico e Respiracao, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro
- Amanda L. Dűck
- Laboratorio de Panico e Respiracao, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro
- Antonio E. Nardi
- Laboratorio de Panico e Respiracao, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro
- Francis J. McMahon
- Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health
- DOI
- https://doi.org/10.1038/s41398-023-02641-w
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 10
Abstract
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.
