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Generation of Human Induced Pluripotent Stem Cells from Peripheral Blood Using the STEMCCA Lentiviral Vector
Published on: October 31, 2012
Generation of two induced pluripotent stem cell lines from hereditary hemorrhagic telangiectasia patients harboring
Mey-Sam Chörsi1, Haley M Fernandez1, Renke Tan1
1Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Abstract:
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder in which dysregulated endothelial signaling drives telangiectasias and arteriovenous malformations across multiple organs. Loss-of-function variants in ACVRL1 (ALK1), a core receptor in BMP9/10 signaling, are a major genetic cause. Here we report two patient-derived induced pluripotent stem cell (iPSC) lines generated from clinically diagnosed HHT donors carrying heterozygous ACVRL1 mutations: c.129dup (p.Pro44Alafs*125) and c.430C > T (p.Arg144*). Both lines showed expected iPSC morphology, robust expression of markers of the undifferentiated iPSC state, genomic stability by LP-WGS, and tri-lineage differentiation capacity. These resources enable human cell-based studies of ACVRL1 haploinsufficiency and provide a starting point for mechanistic and therapeutic work focused on HHT vascular pathobiology.
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