Trends in General Medicine
Open AccessVascular Ehlers Danlos Patient Clinical History and Generation of an Induced Pluripotent Stem Cell (iPSC) Line
Authors: Reece M Foehr, Devin de Monteiro, Erik D Foehr.
Abstract
Vascular Ehlers-Danlos Syndrome (vEDS) is a rare autosomal dominant connective tissue disorder caused by a mutation in collagen 3A1 (COL3A1). The disorder is characterized by tissue friability and age-related susceptibility to arterial aneurysm, dissection, and rupture, as well as uterine and bowel tears. Here we describe the clinical history of a vEDS patient. We generated an induced pluripotent stem cell (iPSC) line derived from a vEDS patient carrying a missense mutation in the COL3A1 gene (c.1762G>A, p. Gly588Ser). The stem cells were generated from a male who presented at 48 years of age with an aortic dissection, with a subsequent genetic diagnosis and familial history established. The line exhibited typical iPSC morphology, expression of pluripotent markers, and normal karyotype. Normal and vEDS-derived stem cells exhibited differences in Collagen III processing. Extracellular PIIINP (amino- terminal propeptide of type III procollagen) is elevated in vEDS cells and subject urine samples. The iPSC line can provide valuable insight into the underlying biochemical mechanisms of vEDS pathophysiology.
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