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

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.