Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene

Stem Cell Res. 2021 Mar:51:102215. doi: 10.1016/j.scr.2021.102215. Epub 2021 Jan 29.

Abstract

The human-induced pluripotent stem cell lines (hiPSCs) (CMCi009), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman who were diagnosed as Birt-Hogg-Dubé syndrome (BHD) caused by the frameshift deletion mutation c.1285delC in FCLN gene, was generated using synthetic mRNA. Generated hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated markers, and directly differentiated into all three germ layers. Karyotyping of generated iPSCs showed normal 46, XY (CMCi009-A) respectively. In summary, we generated a novel patient-specific hiPSCs line containing the same mutation of FLCN gene and it can be used to provide additional insights for BHD pathophysiology.

Keywords: Birt-Hogg-Dubé syndrome; FLCN Gene induced pluripotent stem cell.

Publication types

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

MeSH terms

  • Adult
  • Birt-Hogg-Dube Syndrome* / genetics
  • Female
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear
  • Mutation
  • Proto-Oncogene Proteins / genetics
  • Sequence Deletion
  • Tumor Suppressor Proteins / genetics

Substances

  • FLCN protein, human
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins