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

ABSTRACT: 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 CytoTune^TM-iPS 2.0 Sendai Kit (Invitrogen).

SUBMITTER: De Kinderen P

PROVIDER: S-EPMC9972783 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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

De Kinderen Pauline P Peeters Silke S Rabaut Laura L Mortier Geert G Ponsaerts Peter P Loeys Bart B Verstraeten Aline A Meester Josephina A N JAN

Stem cell research 20230106

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 high ...[more]

PMID: 36640472

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