Human embryonic stem cells derived from abnormal blastocyst donated by polycystic kidney syndrome patient

Stem Cell Res. 2016 Nov;17(3):637-639. doi: 10.1016/j.scr.2016.11.001. Epub 2016 Nov 5.

Abstract

Human embryonic stem cell (hESC) line chHES-468 was derived from abnormal blastocyst donated by polycystic kidney syndrome (PKD) patient after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-468 cell line carried a heterozygous mutation, c.10526_10527delAG, of PKD1. Characteristic tests proved that the chHES-468 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Blastocyst / cytology
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Embryoid Bodies / cytology
  • Embryoid Bodies / metabolism
  • Female
  • Gene Deletion
  • Heterozygote
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Human Embryonic Stem Cells / transplantation
  • Humans
  • Karyotype
  • Male
  • Mice
  • Mice, SCID
  • Plasmids / genetics
  • Plasmids / metabolism
  • Polycystic Kidney Diseases / genetics
  • Polycystic Kidney Diseases / pathology*
  • TRPP Cation Channels / genetics*
  • Teratoma / pathology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • TRPP Cation Channels
  • Transcription Factors
  • polycystic kidney disease 1 protein