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

Research output: Contribution to journalArticlepeer-review


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 languageEnglish (US)
Pages (from-to)519-528
Number of pages10
JournalStem Cell Reports
Issue number3
StatePublished - Mar 14 2017
Externally publishedYes


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

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Developmental Biology
  • Cell Biology


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