Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene

Stem Cell Res. 2022 Oct:64:102922. doi: 10.1016/j.scr.2022.102922. Epub 2022 Sep 17.

Abstract

Autosomal dominant mental retardation type 5 (MRD5) is a rare neurodevelopmental disorder caused by mutations in the SYNGAP1 gene. Here, we established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 30-month-old boy carrying a heterozygous mutation (c.2059C > T) in the SYNGAP1 gene. The iPSCs exhibited a normal karyotype, expressed pluripotency markers, and displayed differentiation potential in vitro.

MeSH terms

  • Child, Preschool
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Intellectual Disability* / genetics
  • Intellectual Disability* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Mutation / genetics
  • ras GTPase-Activating Proteins / genetics
  • ras GTPase-Activating Proteins / metabolism

Substances

  • ras GTPase-Activating Proteins
  • SYNGAP1 protein, human