Generation of patient-derived and gene-corrected hiPSC lines from Hereditary Hemorrhagic Telangiectasia type 2 patients with ACVRL1 c.1042delG mutation

Author(s):
Urdaneta, K.E.; Hil, F.E. van den; Bouma, M.J.; Manjikian, H.; Mummery, C.L. (0000-0002-4549-6535); Freund, C.M.A.H.; Orlova, V.V.; Kampen, S.J. van (0000-0002-4146-8481)
Published
2025
Publication type
Article / Letter to editor

Abstract

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.

Date issued
2025-08-27
Language
English
Publisher
ELSEVIER
Is part of
Stem Cell Research
hdl
1887/4300225
doi
10.1016/j.scr.2025.103812