IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

Stem Cell Res. 2023 Jun:69:103080. doi: 10.1016/j.scr.2023.103080. Epub 2023 Mar 21.


Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. SEDC is clinically characterized by severe short stature, degenerative joint disease, hearing impairment, orofacial anomalies and ocular manifestations. To study and therapeutically target the underlying disease mechanisms, human iPSC-chondrocytes are considered highly suitable as they have been shown to exhibit several key features of skeletal dysplasias. Prior to creating iPSC-chondrocytes, peripheral blood mononuclear cells of two male SEDC patients, carrying the p.Gly1107Arg and p.Gly408Asp pathogenic variants, respectively, were successfully reprogrammed into iPSCs using the CytoTune™-iPS 2.0 Sendai Kit (Invitrogen).

Publication types

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

MeSH terms

  • Collagen Type II / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear
  • Male
  • Osteochondrodysplasias* / genetics


  • Collagen Type II

Supplementary concepts

  • Spondyloepiphyseal dysplasia, congenita