title: Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis.
abstract: In the process of generating presumably clonal human induced pluripotent stem cells (hiPSCs) from two carriers of a complex structural rearrangement, each having a psychotic disorder, we also serendipitously generated isogenic non-carrier control hiPSCs, finding that the rearrangement occurs as an extrachromosomal marker (mar) element. All confirmed carrier hiPSCs and differentiated neural progenitor cell lines were found to be mosaic. We caution that mar elements may be difficult to functionally evaluate in hiPSC cultures using currently available methods, as it is difficult to distinguish cells with and without mar elements in live mosaic cultures.
authors.affiliation: Departments of Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Tcw
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. Electronic address: cfonseca@bcm.edu.
authors.forename: Claudia M B
authors.initials: CMB
authors.lastname: Carvalho
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
authors.forename: Bo
authors.initials: B
authors.lastname: Yuan
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
authors.forename: Shen
authors.initials: S
authors.lastname: Gu
authors.affiliation: Departments of Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA.
authors.forename: Alyssa N
authors.initials: AN
authors.lastname: Altheimer
authors.affiliation: Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.
authors.forename: Shane
authors.initials: S
authors.lastname: McCarthy
authors.affiliation: F. Hoffmann-La Roche Ltd, 4070 Basel, Switzerland.
authors.forename: Dheeraj
authors.initials: D
authors.lastname: Malhotra
authors.affiliation: Departments of Psychiatry, Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Sebat
authors.affiliation: Department of Internal Medicine, McLean Hospital, Belmont, MA 02478, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Arthur J
authors.initials: AJ
authors.lastname: Siegel
authors.affiliation: Laboratory of Genetic Neuropharmacology, McLean Hospital, Belmont, MA 02478, USA; Department of Psychiatry, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Uwe
authors.initials: U
authors.lastname: Rudolph
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.affiliation: Department of Psychiatry, Harvard Medical School, Boston, MA 02115, USA; Psychology Research Laboratory, McLean Hospital, Belmont, MA 02478, USA. Electronic address: dlevy@mclean.harvard.edu.
authors.forename: Deborah L
authors.initials: DL
authors.lastname: Levy
authors.affiliation: Departments of Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA. Electronic address: kristen.brennand@mssm.edu.
authors.forename: Kristen J
authors.initials: KJ
authors.lastname: Brennand
mesh_terms: D058674:Chromosome Duplication; D002877:Chromosomes, Human; D002899:Chromosomes, Human, Pair 9; D055028:Comparative Genomic Hybridization; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000378:metabolism*; D045170:Matrix Attachment Regions / Q000235:genetics; D009030:Mosaicism; D011618:Psychotic Disorders / Q000235:genetics*; D014314:Trisomy
chemical_list: D005819:Genetic Markers
keywords: 9p24.1; bipolar disorder; human induced pluripotent stem cell; isogenic; marker chromosome; mosaic; neural progenitor cell; schizophrenia