Generation of patient-derived and gene-corrected hiPSC lines from Hereditary Hemorrhagic Telangiectasia type 2 patients with ACVRL1 c.1042delG mutation
Summary
Hereditary Hemorrhagic Telangiectasia type 2 (HHT2) is a vascular disorder caused by mutations in ACVRL1. We generated human induced pluripotent stem cell (hiPSC) lines from two HHT2 patients with a heterozygous 1 bp deletion in exon 7 of ACVRL1 (c.1042delG) by reprogramming skin fibroblasts. Gene-corrected isogenic hiPSCs were created using CRISPR-Cas9. All lines displayed normal karyotypes, expressed markers of the undifferentiated state, differentiated into all germ layers in vitro, and showed no off-target effects. These patient-derived, genetically matched hiPSC pairs provide a robust platform for modeling HHT2 in vitro and investigating molecular mechanisms of pathogenesis. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Urdaneta KE, van den Hil FE, Bouma MJ, Manjikian H, Mummery CL, Freund CMAH, Orlova VV, van Kampen SJ |
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| Journal | Stem cell research |
| Publication Date | 2025 Oct;88:103812 |
| PubMed | 40876070 |
| DOI | 10.1016/j.scr.2025.103812 |