对一名患有肺动脉狭窄且携带杂合HAND2变异的1岁女性诱导多能干细胞系NCHi025-A的特征描述。

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

作者信息

Argall Aaron, Ye Shiqiao, Moccia Amanda, Stone Brandon, Hunter Jesse, Garg Vidu, Zhao Ming-Tao

机构信息

Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.

Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.

出版信息

Stem Cell Res. 2025 Aug;86:103733. doi: 10.1016/j.scr.2025.103733. Epub 2025 May 10.

DOI:10.1016/j.scr.2025.103733

PMID:40378586

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12276957/

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.

摘要

HAND2是一种转录因子，在心脏、四肢和咽弓的发育中起着至关重要的作用。研究表明，HAND2的功能缺陷会导致身体四肢和心脏出现先天性畸形。NCHi025 - A诱导多能干细胞系源自一名患有肺动脉狭窄的1岁女性，在HAND2基因（NM_021973.3；c.247delG；p.Val83CysfsTer16）内存在一个意义不明的新型从头杂合变异。该变异导致移码和过早的终止密码子，预计会使蛋白质截短。NCHi025 - A是一种多能干细胞系，可用于研究HAND2相关的表型发育。