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

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.

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.

Timely genetic testing is crucial for diagnosing pediatric patients in the intensive care units (ICUs) without known etiology. We aim to explore the benefits of singleton rapid long-read genome sequencing (rLR-GS) in critically ill children admitted to ICU with a suspected genetic etiology. Children younger than 18 years of age admitted to the ICU with a suspected genetic etiology at two tertiary hospitals in Thailand from August 2023 to May 2024 were included.

Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).

Loss of function variants in ALPK3 have been associated with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). However, the underlying pathomechanism remain largely unknown. Here, we generated human iPSC lines from four HCM patients carrying the heterozygous pathogenic variant in ALPK3 (c.