携带CDH23基因c.1515-12G>A变异的两个诱导多能干细胞系的产生。
Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant.
作者信息
Zaw Khine, Fernando Milan, Zhang Dan, Chen Shang-Chih, Carvalho Livia S, Gonzalez-Cordero Anai, Lamey Tina M, Thompson Jennifer A, McLaren Terri L, Chen Fred K, McLenachan Samuel
机构信息
Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
Stem Cell Medicine and Stem Cell and Organoid Facility, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW 2145, Australia.
出版信息
Stem Cell Res. 2025 Jun;85:103706. doi: 10.1016/j.scr.2025.103706. Epub 2025 Mar 31.
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.
常染色体隐性遗传性耳聋-视网膜色素变性综合征（USH）是最常见的遗传性致盲致聋疾病，全球每30000人中就有1人受其影响。在此，我们从一名48岁的男性杂合子携带者中建立了两条诱导多能干细胞（iPSC）系，该携带者的NM_022124.6基因发生了c.1515-12G＞A突变，该突变与1D型USH相关的CDH23基因有关。重编程后的iPSC系具有正常的核型，表达多能性标志物，并在胚状体分化过程中表现出分化为三个主要发育层的能力。
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