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IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).
De Kinderen, Pauline; Rabaut, Laura; Perik, Melanie H A M; Peeters, Silke; Ponsaerts, Peter; Loeys, Bart; Mortier, Geert; Meester, Josephina A N; Verstraeten, Aline.
Affiliation
  • De Kinderen P; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Rabaut L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Perik MHAM; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Peeters S; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Ponsaerts P; Laboratory of Experimental Hematology, Vaccine and Infectious Disease Institute (Vaxinfectio), University of Antwerp, Antwerp, Belgium.
  • Loeys B; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Mortier G; Center of Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
  • Meester JAN; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address: Aline.Verstraeten@uantwerpen.be.
Stem Cell Res ; 69: 103080, 2023 06.
Article in En | MEDLINE | ID: mdl-36966641
ABSTRACT
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).
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Induced Pluripotent Stem Cells Limits: Humans / Male Language: En Journal: Stem Cell Res Year: 2023 Document type: Article Affiliation country: Belgium
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Induced Pluripotent Stem Cells Limits: Humans / Male Language: En Journal: Stem Cell Res Year: 2023 Document type: Article Affiliation country: Belgium