Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Julia TCW; Claudia M.B. Carvalho; Bo Yuan; Shen Gu; Alyssa N. Altheimer; Shane McCarthy; Dheeraj Malhotra; Jonathan Sebat; Arthur J. Siegel; Uwe Rudolph; James R. Lupski; Deborah L. Levy; Kristen J. Brennand

doi:10.1016/j.stemcr.2017.01.010

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Julia TCW, Claudia M.B. Carvalho, Bo Yuan, Shen Gu, Alyssa N. Altheimer, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Arthur J. Siegel, Uwe Rudolph, James R. Lupski, Deborah L. Levy, Kristen J. Brennand

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9 Scopus citations

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.

Original language	English
Pages (from-to)	519-528
Number of pages	10
Journal	Stem Cell Reports
Volume	8
Issue number	3
DOIs	https://doi.org/10.1016/j.stemcr.2017.01.010
State	Published - 14 Mar 2017

Keywords

9p24.1
bipolar disorder
human induced pluripotent stem cell
isogenic
marker chromosome
mosaic
neural progenitor cell
schizophrenia

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10.1016/j.stemcr.2017.01.010

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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.",

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AU - TCW, Julia

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AU - Altheimer, Alyssa N.

AU - McCarthy, Shane

AU - Malhotra, Dheeraj

AU - Sebat, Jonathan

AU - Siegel, Arthur J.

AU - Rudolph, Uwe

AU - Lupski, James R.

AU - Levy, Deborah L.

AU - Brennand, Kristen J.

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Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Abstract

Keywords

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