A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders

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...

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Published in:	Translational psychiatry Vol. 13; no. 1; p. 397
Main Authors:	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, Dűck, Amanda L., Nardi, Antonio E., McMahon, Francis J.
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 16-12-2023 Nature Publishing Group
Subjects:	13/1 13/100 13/106 14/32 14/34 14/63 45/22 45/23 45/47 45/61 631/208 631/378 631/532 Animals Behavioral Sciences Biological Psychology Depressive Disorder, Major - genetics Depressive Disorder, Major - metabolism Genome-Wide Association Study Genomics Humans Induced Pluripotent Stem Cells - metabolism Medicine Medicine & Public Health Neurosciences Pharmacotherapy Psychiatry Psychotic Disorders - metabolism Schizophrenia - genetics Schizophrenia - metabolism
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2158-3188 2158-3188
DOI:	10.1038/s41398-023-02641-w