两种携带CDH23 c.1515-12G > A变异的诱导多能干细胞系的产生

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-03-31 DOI:10.1016/j.scr.2025.103706

Khine Zaw , Milan Fernando , Dan Zhang , Shang-Chih Chen , Livia S Carvalho , Anai Gonzalez Cordero , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan

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引用次数: 0

摘要

常染色体隐性Usher综合征（USH）是最常见的遗传性聋盲疾病，全世界每3万人中就有1人患有此病。在这里，我们建立了两种诱导多能干细胞（iPSC），来自一名48岁的男性携带者，该携带者携带一种与USH型1D相关的CDH23基因突变NM_022124.6: c.1515-12G >； 。重编程的iPSC细胞系核型正常，表达多能性标记，在胚状体分化过程中表现出向三个主要发育层分化的能力。

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Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant

Autosomal recessive Usher syndrome (USH) is the most common inherited deaf-blindness disease, affecting one in 30,000 people worldwide. Here, we established two lines of induced pluripotent stem cells (iPSC) from a 48-year-old male carrier of a heterozygous NM_022124.6: c.1515-12G > A mutation in the CDH23 gene associated with USH type 1D. The reprogrammed iPSC lines had a normal karyotype, expressed pluripotency markers and showed the ability to differentiate into the three major developmental layers during embryoid body differentiation.

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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.

两种携带CDH23 c.1515-12G > A变异的诱导多能干细胞系的产生

摘要

两种携带CDH23 c.1515-12G > A变异的诱导多能干细胞系的产生