Work

Generation of human induced pluripotent stem cell lines from patients with PHACE syndrome

Year: 2025

Type: article

Abstract: PHACE syndrome (posterior fossa anomalies, hemangiomas, arterial anomalies, cardiac defects, and eye anomalies) represents a series of multisystem structural birth defects associated with a benign infantile hemangioma. This rare disease presents a variety of symptoms, and its genetic etiology remains unknown. We isolated peripheral mononuclear blood cells (PBMCs) from three patients with PHACE syndrome and generated induced pluripotent stem cell (iPSC) lines using Sendai virus reprogramming. Each line exhibits normal iPSC morphology, high expression of pluripotency factor genes, and trilineage differentiation capability. These lines are valuable for modeling PHACE syndrome in vitro to explore the disease mechanism and screen for potential therapeutics.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103802

Authors: Rohin Ramchandani, Chanatjit Cheawsamoot, Giovanni A. Torres, Jennifer Arthur Ataam, Dawn Siegel, Ioannis Karakikes

Institutions: Stanford Medicine, Stanford Cardiovascular Institute, Stanford University

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360