Human Embryonic Stem Cell Lines with Lesions in FOXP3 and NF1

PLoS One. 2016 Mar 18;11(3):e0151836. doi: 10.1371/journal.pone.0151836. eCollection 2016.


Human embryonic stem cells (hESCs) are derived from the inner cell mass (ICM) of blastocyst staged embryos. Spare blastocyst staged embryos were obtained by in vitro fertilization (IVF) and donated for research purposes. hESCs carrying specific mutations can be used as a powerful cell system in modeling human genetic disorders. We obtained preimplantation genetic diagnosed (PGD) blastocyst staged embryos with genetic mutations that cause human disorders and derived hESCs from these embryos. We applied laser assisted micromanipulation to isolate the inner cell mass from the blastocysts and plated the ICM onto the mouse embryonic fibroblast cells. Two hESC lines with lesions in FOXP3 and NF1 were established. Both lines maintain a typical undifferentiated hESCs phenotype and present a normal karyotype. The two lines express a panel of pluripotency markers and have the potential to differentiate to the three germ layers in vitro and in vivo. The hESC lines with lesions in FOXP3 and NF1 are available for the scientific community and may serve as an important resource for research into these disease states.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line*
  • Forkhead Transcription Factors / genetics*
  • Human Embryonic Stem Cells / physiology*
  • Humans
  • Mutation*
  • Neurofibromin 1 / genetics*
  • Pluripotent Stem Cells / physiology


  • FOXP3 protein, human
  • Forkhead Transcription Factors
  • Neurofibromin 1

Grant support

This work was supported by the California Institute of Regenerative Medicine: Grant number RL1-00630-1, JB received the funding. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.