Stem Cell Reports (Mar 2017)

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
https://doi.org/10.1016/j.stemcr.2017.01.010
Journal volume & issue
Vol. 8, no. 3
pp. 519 – 528

Abstract

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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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