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Article

Generation of ALK1 p.Gly48Glu mutant LUMCi029-A-3 for modeling Hereditary hemorrhagic telangiectasia type 2.

Stem cell research - 1 Jun 2026

Koutala E, Cantarini C, Raymond Karine, Lebrin Franck

Abstract excerpt

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...

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Identifiers

PMID: 41905104
DOI: 10.1016/j.scr.2026.103974

Genes

ACVRL1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Generation of ALK1 p.Gly48Glu mutant LUMCi029-A-3 for modeling Hereditary hemorrhagic telangiectasia type 2.PMID 41905104Read ↗

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