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

Stem Cell Res. 2021 Mar:51:102140. doi: 10.1016/j.scr.2020.102140. Epub 2020 Dec 25.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Clone Cells
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear
  • Male
  • Mutation / genetics
  • RNA-Binding Proteins
  • Receptors, KIR2DL1
  • Schizophrenia* / genetics
  • Sialoglycoproteins
  • Trans-Activators

Substances

  • KHSRP protein, human
  • KIR2DL1 protein, human
  • LRRC7 protein, human
  • RNA-Binding Proteins
  • Receptors, KIR2DL1
  • Sialoglycoproteins
  • Trans-Activators