An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

Stem Cell Res. 2019 Oct:40:101579. doi: 10.1016/j.scr.2019.101579. Epub 2019 Sep 14.

Abstract

Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib carrying compound heterozygous mutations of c.502C > T/p.R168C and c.965C > T/p.T322I in BCKDHB. The iPSCs had normal karyotype, expressed pluripotency markers, free of genomically integrated episomal plasmids and demonstrated trilineage differentiation potential in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / genetics*
  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / metabolism
  • Cell Differentiation
  • Cell Line / cytology*
  • Cell Line / metabolism
  • Cells, Cultured
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Infant, Newborn
  • Male
  • Maple Syrup Urine Disease / enzymology
  • Maple Syrup Urine Disease / genetics*
  • Mutation, Missense
  • Point Mutation

Substances

  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)

Supplementary concepts

  • Maple syrup urine disease, type 1B