Generation of autism spectrum disorder patient-derived iPSC line SDUKIi004-A

Stem Cell Res. 2020 Dec:49:102038. doi: 10.1016/j.scr.2020.102038. Epub 2020 Oct 8.

Abstract

Autism is a heterogeneous neurodevelopmental disorder defined by deficits in socialization, communication, and patterns of behavior. Using stem cells to model brain disordersmay yield new understanding about the underlying neuropathological processes and could prove essential for drug development. We present here a newhuman inducedpluripotentstem cell (iPSC) line (SDUKIi004-A) generated from skin fibroblasts derived from a 21-year old male patient diagnosed with Pervasive DevelopmentalDisorder-Not Otherwise Specified (PDD-NOS)("FYNEN-cohort"). Reprogramming of the fibroblasts was accomplished using integration-free episomal plasmids. Characterization validated the expression of pluripotency markers, differentiation into the three germ layers, and absence of chromosomal abnormalities.

Publication types

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

MeSH terms

  • Adult
  • Autism Spectrum Disorder* / genetics
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Fibroblasts
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Young Adult