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,...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-06-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123000661 |
| _version_ | 1797816036473438208 |
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| author | Pauline De Kinderen Laura Rabaut Melanie H.A.M. Perik Silke Peeters Peter Ponsaerts Bart Loeys Geert Mortier Josephina A.N. Meester Aline Verstraeten |
| author_facet | Pauline De Kinderen Laura Rabaut Melanie H.A.M. Perik Silke Peeters Peter Ponsaerts Bart Loeys Geert Mortier Josephina A.N. Meester Aline Verstraeten |
| author_sort | Pauline De Kinderen |
| collection | DOAJ |
| description | 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). |
| first_indexed | 2024-03-13T08:31:43Z |
| format | Article |
| id | doaj.art-3c12b5d9d8e346108dfa762b85796606 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-13T08:31:43Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-3c12b5d9d8e346108dfa762b857966062023-05-31T04:44:07ZengElsevierStem Cell Research1873-50612023-06-0169103080IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)Pauline De Kinderen0Laura Rabaut1Melanie H.A.M. Perik2Silke Peeters3Peter Ponsaerts4Bart Loeys5Geert Mortier6Josephina A.N. Meester7Aline Verstraeten8Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, BelgiumCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, BelgiumCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, BelgiumCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, BelgiumLaboratory of Experimental Hematology, Vaccine and Infectious Disease Institute (Vaxinfectio), University of Antwerp, Antwerp, BelgiumCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the NetherlandsCenter of Human Genetics, University Hospital Leuven and KU Leuven, Leuven, BelgiumCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, BelgiumCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Corresponding author.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).http://www.sciencedirect.com/science/article/pii/S1873506123000661 |
| spellingShingle | Pauline De Kinderen Laura Rabaut Melanie H.A.M. Perik Silke Peeters Peter Ponsaerts Bart Loeys Geert Mortier Josephina A.N. Meester Aline Verstraeten IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) Stem Cell Research |
| title | IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) |
| title_full | IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) |
| title_fullStr | IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) |
| title_full_unstemmed | IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) |
| title_short | IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) |
| title_sort | ipsc reprogramming of two patients with spondyloepiphyseal dysplasia congenita sedc |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123000661 |
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