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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,...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240565/ https://www.ncbi.nlm.nih.gov/pubmed/36966641 http://dx.doi.org/10.1016/j.scr.2023.103080 |
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author | De Kinderen, Pauline Rabaut, Laura Perik, Melanie H.A.M. Peeters, Silke Ponsaerts, Peter Loeys, Bart Mortier, Geert Meester, Josephina A.N. Verstraeten, Aline |
author_facet | De Kinderen, Pauline Rabaut, Laura Perik, Melanie H.A.M. Peeters, Silke Ponsaerts, Peter Loeys, Bart Mortier, Geert Meester, Josephina A.N. Verstraeten, Aline |
author_sort | De Kinderen, Pauline |
collection | PubMed |
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). |
format | Online Article Text |
id | pubmed-10240565 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-102405652023-06-06 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 Stem Cell Res Lab Resource: Multiple Cell Lines 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). Elsevier 2023-06 /pmc/articles/PMC10240565/ /pubmed/36966641 http://dx.doi.org/10.1016/j.scr.2023.103080 Text en © 2023 The Author(s) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Lab Resource: Multiple Cell Lines De Kinderen, Pauline Rabaut, Laura Perik, Melanie H.A.M. Peeters, Silke Ponsaerts, Peter Loeys, Bart Mortier, Geert Meester, Josephina A.N. Verstraeten, Aline IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) |
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) |
topic | Lab Resource: Multiple Cell Lines |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240565/ https://www.ncbi.nlm.nih.gov/pubmed/36966641 http://dx.doi.org/10.1016/j.scr.2023.103080 |
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