Generation of induced pluripotent stem cell (JHUi009-A) and isogenic control (JHUi009-A-1) lines from a patient with vascular Ehlers-Danlos syndrome (vEDS) harboring a pathogenic c.2456G > A in COL3A1
Summary
We generated and validated a vascular Ehlers-Danlos syndrome (vEDS) human iPSC line, JHUi009-A, carrying a pathogenic COL3A1 c.2456G > A variant, and a CRISPR/Cas9-edited isogenic control line, JHUi009-A-1. Reprogramming was performed on expanded erythroid progenitor cells using an integration-free Sendai virus system. Both lines showed typical pluripotent colony morphology, expressed stemness-associated transcription factors, retained a normal 46, XY karyotype, and differentiated into derivatives of all three germ layers. These hiPSC lines differentiated into vSMCs, with mutant vSMCs showing higher contractile marker expression than the corrected control, supporting their use as an in vitro model of a COL3A1-associated vascular phenotype. Copyright © 2026. Published by Elsevier B.V.
| Authors | Wu SCM, DiSilvestre D, Tomaselli GF, Boheler KR |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jun 1;95:104023 |
| PubMed | 42269214 |
| DOI | 10.1016/j.scr.2026.104023 |