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Can I read IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) on EtoBox?
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) by Pauline De Kinderen; Laura Rabaut; Melanie H.A.M. Perik; Silke Peeters; Peter Ponsaerts; Bart Loeys; Geert Mortier; Josephina A.N. Meester; Aline Verstraeten is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) about?
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 CytoTuneTM-iPS 2.0 Sendai Kit (Invitrogen).
Who reads IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- 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
- Publisher
- Elsevier BV
- Published
- 2023
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)