Generation of ALK1 p.Gly48Glu mutant LUMCi029-A-3 for modeling Hereditary hemorrhagic telangiectasia type 2
Summary
Hereditary hemorrhagic telangiectasia type 2 (HHT2) is an autosomal dominant vascular disorder caused by pathogenic variants in ACVRL1, which encodes activin receptor-like kinase 1 (ALK1). Here, we report the generation and characterization of an isogenic human induced pluripotent stem cell (hiPSC) line carrying a heterozygous ACVRL1 c.143G > A (p.Gly48Glu) mutation. The mutation was introduced using CRISPR/Cas9-mediated genome editing and confirmed by PCR and Sanger sequencing. The edited line retained normal karyotype, pluripotency, and trilineage differentiation capacity. This hiPSC line represents a relevant in vitro model for HHT2 disease modelling and drug testing. Copyright © 2026. Published by Elsevier B.V.
| Authors | Koutala E, Cantarini C, Raymond K, Lebrin F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Mar 26;93:103974 |
| PubMed | 41905104 |
| DOI | 10.1016/j.scr.2026.103974 |