Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene

Stem Cell Res. 2019 Oct:40:101565. doi: 10.1016/j.scr.2019.101565. Epub 2019 Sep 6.

Abstract

We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese neonate with mastocytosis carrying heterozygous mutation (c.2447A > T (p.D816V)) in KIT gene by episomal vector (EV) reprogramming system. This iPSC line carrying KIT gene mutation, was free of exogenous gene, showed a normal karyotype, expressed pluripotency markers and exhibited differentiation potential.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cell Line / cytology
  • Cell Line / metabolism*
  • Cellular Reprogramming
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / cytology
  • Induced Pluripotent Stem Cells / metabolism*
  • Infant, Newborn
  • Male
  • Mastocytosis / genetics*
  • Mastocytosis / metabolism
  • Mastocytosis / physiopathology
  • Point Mutation
  • Proto-Oncogene Proteins c-kit / genetics*
  • Proto-Oncogene Proteins c-kit / metabolism

Substances

  • KIT protein, human
  • Proto-Oncogene Proteins c-kit