Three lines of induced pluripotent stem cells derived from a 15q11.2-q13.1 duplication syndrome patient

Stem Cell Res. 2018 Aug:31:240-243. doi: 10.1016/j.scr.2018.08.004. Epub 2018 Aug 10.

Abstract

Duplications at the 15q11.2-q13.1 region are associated with psychiatric disorders such as developmental delay and autism spectrum disorder. However, the specific influence of these duplications on human neuronal cells remains unclear. Here we generated induced pluripotent stem cells (iPSCs) derived from a patient with 15q11.2-q13.1 duplication syndrome. The generated iPSCs carried 15q11.2-q13.1 duplication and showed typical iPSC morphology and pluripotency marker expression, and the capacity to differentiate into three germ layers. These iPSC lines will contribute to further understanding the pathology of 15q11.2-q13.1 duplication syndrome and help develop drugs to treat psychiatric disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 15 / genetics
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Intellectual Disability / genetics*

Supplementary concepts

  • Duplication 15q11-q13 Syndrome