An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene

Stem Cell Res. 2020 Mar:43:101729. doi: 10.1016/j.scr.2020.101729. Epub 2020 Feb 4.

Abstract

Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder caused by mutations in the nebulin (NEB) gene. We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-month-old patient with NEM2 carrying compound heterozygote mutations (c.6915+1G>T, c.14910+3G>C) in NEB gene. The peripheral blood mononuclear cells (PBMCs) were reprogrammed with non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC. The established iPSC line contained the same mutations found in the patient, showed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers.

Keywords: NEB gene; iPSC; nemaline myopath-2; reprogramming.

Publication types

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

MeSH terms

  • Female
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Infant, Newborn
  • Kruppel-Like Factor 4
  • Muscle Proteins / genetics*
  • Mutation
  • Myopathies, Nemaline / genetics*

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Muscle Proteins
  • nebulin

Supplementary concepts

  • Nemaline Myopathy 2