IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)


Hemizygous missense variants in the X-linked BGN gene, encoding the extracellular matrix protein biglycan, cause spondyloepimetaphyseal dysplasia (SEMD, biglycan type), which is clinically characterized by short stature, brachydactyly and osteoarthritis. Little is known about the pathomechanisms underlying SEMD, biglycan type. IPSC-derived chondrocyte disease models have been shown to exhibit several key aspects of known disease mechanisms of skeletal dysplasias and are therefore considered highly suitable human disease models to study SEMD, biglycan type. Prior to creating iPSC-chondrocytes, dermal fibroblasts of two male patients with SEMD, biglycan type, carrying the p.Gly259Val variant were successfully reprogrammed into iPSCs using the CytoTuneTM-iPS 2.0 Sendai Kit (Invitrogen). Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors De Kinderen P, Peeters S, Rabaut L, Mortier G, Ponsaerts P, Loeys B, Verstraeten A, Meester JAN
Journal Stem cell research
Publication Date 2023 Jan 6;67:103024
PubMed 36640472
DOI 10.1016/j.scr.2023.103024

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