Stem Cell Research (Mar 2021)

Generation of multiple iPSC clones from a male schizophrenia patient carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and his parents

  • Edit Hathy,
  • Eszter Szabó,
  • Katalin Vincze,
  • Irén Haltrich,
  • Eszter Kiss,
  • Nóra Varga,
  • Zsuzsa Erdei,
  • György Várady,
  • László Homolya,
  • Ágota Apáti,
  • János M. Réthelyi

Journal volume & issue
Vol. 51
p. 102140

Abstract

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Here we describe the generation of induced pluripotent stem cell lines from each member - male proband, mother, father - of a schizophrenia case-parent trio that participated in an exome sequencing study, and 3 de novo mutations were identified in the proband. Peripheral blood mononuclear cells were obtained from all three individuals and reprogrammed using Sendai virus particles carrying the Yamanaka transgenes. These 3 iPSC lines (iPSC-SZ-HU-MO 1, iPSC-SZ-HU-FA 1, and iPSC-SZ-HU-PROB 1) represent a resource for examining the functional significance of the identified de novo mutations in the molecular pathophysiology of schizophrenia.