Generation of an Induced Pluripotent Stem Cell Line from a Patient with Infantile Liver Failure Syndrome 2 Carrying a Compound Heterozygous Mutation in NBAS.

Abstract

Infantile liver failure syndrome 2 (ILFS2, OMIM 616483) is a rare autosomal recessive disorder caused by neuroblastoma amplified sequence (NBAS) gene mutation, resulting in recurrent episodes of acute liver failure (ALF). The first onset of ALF is more common in infancy or early childhood. Recently, we identified a compound heterozygous mutation, c.3596G>A (p.C1199Y)/ex.9del (p.216-248del), in the NBAS gene in a patient with ILFS2. The human dermal fibroblasts (HDFs) of the patient were obtained, and a line of induced pluripotent stem cells (iPSCs) was successfully generated. The iPSC line will be useful for further study of the pathogenesis and physiology of ILFS2.