Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome

Stem Cell Res. 2018 Apr;28:153-156. doi: 10.1016/j.scr.2018.02.016. Epub 2018 Feb 21.

Abstract

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Differentiation
  • Embryoid Bodies / cytology
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Mice
  • Mutation / genetics*
  • Smith-Magenis Syndrome / genetics*
  • Teratoma / pathology
  • Trans-Activators
  • Transcription Factors / genetics*

Substances

  • RAI1 protein, human
  • Trans-Activators
  • Transcription Factors