An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene

Stem Cell Res. 2019 Dec:41:101577. doi: 10.1016/j.scr.2019.101577. Epub 2019 Sep 13.

Abstract

Induced pluripotent stem cell (iPSC) line (SDQLCHi012-A) was generated from peripheral blood mononuclear cells of an 11-month-old male who was diagnosed as inflammatory bowel disease-28 caused by compound heterozygote for IL10RA mutations (c.188 + 1G > A and c.301C > T). Non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line contained the same mutations identified in the patient, showed a normal karyotype, differentiation potential in vitro and expressed pluripotency markers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Heterozygote*
  • Humans
  • Induced Pluripotent Stem Cells / pathology
  • Inflammatory Bowel Diseases* / genetics
  • Inflammatory Bowel Diseases* / metabolism
  • Inflammatory Bowel Diseases* / pathology
  • Interleukin-10 Receptor alpha Subunit* / genetics
  • Interleukin-10 Receptor alpha Subunit* / metabolism
  • Kruppel-Like Factor 4
  • Mutation*

Substances

  • Interleukin-10 Receptor alpha Subunit
  • KLF4 protein, human
  • Kruppel-Like Factor 4