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Article

Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis.

Cells - 10 Jun 2023

Xiang-Tischhauser Li, Bette Michael, Rusche Johanna R, Roth Katrin, Kasahara Norio, Stuck Boris A, Bakowsky Udo, Wartenberg Maria, Sauer Heinrich, Geisthoff Urban W, Mandic Robert

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) type 2 is an autosomal dominant disease in which one allele of the ACVRL1 gene is mutated. Patients exhibit disturbances in TGF-beta/BMP-dependent angiogenesis and, clinically, often present with severe nosebleeds as well as a reduced quality of life. The aim of our study was to use CRISPR/Cas9 to knockout ACVRL1 in normal induced pluripotent stem cells (iPSCs) and...

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Identifiers

PMID: 37371070
DOI: 10.3390/cells12121600
PMCID: PMC10297623

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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