Characterization of an induced pluripotent stem cell line NCHi025-A from a 1-year-old female with pulmonary stenosis harboring a heterozygous HAND2 variant

Abstract

HAND2 is a transcription factor that plays a vital role in the development of the heart, limbs, and pharyngeal arch. Functional defects in HAND2 have been shown to cause congenital malformations in the extremities of the body and the heart. NCHi025-A iPSC line was generated from a 1-year-old female with pulmonary stenosis and harbors a novel de novo heterozygous variant of uncertain significance within HAND2 (NM_021973.3; c.247delG; p.Val83CysfsTer16). This variant causes a frameshift and premature stop codon that is predicted to truncate the protein. NCHi025-A is a pluripotent stem cell line that can be leveraged to investigate HAND2-associated phenotypic development.