1岁肺狭窄女性携带杂合型HAND2变异的诱导多能干细胞系NCHi025-A的鉴定

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-05-10 DOI:10.1016/j.scr.2025.103733

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

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引用次数: 0

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。HAND2的功能缺陷已被证明会导致身体和心脏的四肢先天性畸形。NCHi025-A iPSC系来自一名1岁的肺狭窄女性，在HAND2中含有一种新的杂合变异，其意义不确定(NM_021973.3；c.247delG;p.Val83CysfsTer16)。这种变异导致移码和过早终止密码子，预计会截断蛋白质。NCHi025-A是一种多能干细胞系，可用于研究hand2相关的表型发育。

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

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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.