Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.
Stem Cell Res
; 75: 103321, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-38301384
ABSTRACT
Ehlers-Danlos syndrome (EDS) belongs to a spectrum of rare heritable connective tissue disorders and is characterised by hyperextensibility, joint hypermobility and tissue fragility. Peripheral blood mononuclear cells (PBMCs) from a vascular EDS (vEDS) patient, known as the rarest EDS subtype, carrying a heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene, which is essential for type III collagen synthesis, were reprogrammed into induced pluripotent stem cells (iPSCs). The generated iPSCs exhibit high expression of pluripotency-associated markers, possess trilineage differentiation capacity and reveal a normal karyotype. This novel patient-specific cell line enables in-depth pathophysiological studies of vEDS.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ehlers-Danlos Syndrome
/
Induced Pluripotent Stem Cells
/
Ehlers-Danlos Syndrome, Type IV
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article
Affiliation country:
Austria
Country of publication:
United kingdom