Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.

Brain malformations with or without urinary tract defects (BRMUTD) are caused by heterozygous variants in the NFIA gene. BRMUTD is a neurodevelopmental disorder characterized by hypoplasia or absence of the corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay, which may or may not be accompanied by urinary tract defects. Here, we report the successful generation of induced pluripotent stem cells (hiPSCs) from a 3-year-old male BRMUTD patient using Sendai virus-based non-integrating reprogramming technology. This patient-derived cell line harbors an intragenic deletion within the NFIA gene (NC_000001.10: g.61650967_61842967del [GRCh37]), which is associated with a significant reduction in NFIA expression. This cell line maintains a normal karyotype, expresses pluripotency markers, and can differentiate into three germ layers. The established hiPSCs line will provide an in vitro model for studying pathological mechanisms and potential therapies of NFIA-related neurodevelopmental disorder.