从一名患有小眼和无虹膜症的患者中生成人诱导多能干细胞系（UCLi013-A），该患者携带 PAX6 基因中的杂合错义突变 c.372C>A p.(Asn124Lys)。
Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6.
机构信息
UCL Institute of Ophthalmology, London, UK.
UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
出版信息
Stem Cell Res. 2021 Mar;51:102184. doi: 10.1016/j.scr.2021.102184. Epub 2021 Jan 18.
A human induced pluripotent stem cell (hiPSC) line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia. The patient had a heterozygous missense mutation in PAX6 c.372C>A, p.(Asn124Lys), validated in the fibroblasts through Sanger sequencing. Fibroblasts derived from a skin biopsy were reprogrammed using integration free episomal reprogramming. The established iPSC line was found to express pluripotency markers, exhibit differentiation potential in vitro and display a normal karyotype. This cell line will act as a tool for disease modelling of microphthalmia and aniridia, identification of therapeutic targets and drug screening.
人诱导多能干细胞（hiPSC）系（UCLi013-A）是从一名 34 岁供体的成纤维细胞中生成的，该供体患有多种眼部疾病，包括严重的小眼症和虹膜缺失。患者在成纤维细胞中通过 Sanger 测序验证存在 PAX6 c.372C>A，p.（Asn124Lys）杂合错义突变。通过无整合的附加体重编程技术对源自皮肤活检的成纤维细胞进行重编程。该建立的 iPSC 系表达多能性标志物，在体外显示出分化潜能，并显示出正常的核型。该细胞系将作为小眼症和虹膜缺失疾病建模、治疗靶点鉴定和药物筛选的工具。
Zotero 插件