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

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.