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


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). Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors De Kinderen P, Rabaut L, Perik MHAM, Peeters S, Ponsaerts P, Loeys B, Mortier G, Meester JAN, Verstraeten A
Journal Stem cell research
Publication Date 2023 Jun;69:103080
PubMed 36966641
PubMed Central PMC10240565
DOI 10.1016/j.scr.2023.103080

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