IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).
Stem Cell Res
; 67: 103024, 2023 03.
Article
en En
| MEDLINE
| ID: mdl-36640472
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 CytoTuneTM-iPS 2.0 Sendai Kit (Invitrogen).
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Células Madre Pluripotentes Inducidas
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2023
Tipo del documento:
Article