从一名患有UBAP1L相关视网膜营养不良的受试者中生成人类诱导多能干细胞系以及经CRISPR/cas9校正的同基因诱导多能干细胞系。
Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.
作者信息
Amprou Andréa, Yacoub Tasnim Ben, Letellier Camille, Degaetano Vincenzo, Méjécase Cécile, Pormehr Leila Azizzadeh, Condroyer Christel, Slembrouck-Brec Amélie, Wohlschlegel Juliette, Goureau Olivier, Zeitz Christina, Audo Isabelle
机构信息
Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
出版信息
Stem Cell Res. 2024 Dec;81:103558. doi: 10.1016/j.scr.2024.103558. Epub 2024 Sep 11.
A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derived from this affected subject line were created using CRISPR/Cas9 engineering. All iPSC lines expressing the pluripotency markers, were able to differentiate into the three germ layers, and exhibit a normal karyotype. These cellular models will provide a powerful tool to study disease mechanisms associated with the recently reported UBAP1L- associated retinal dystrophy and better understand the role of the protein in retinal physiology.
从一名患有常染色体隐性视网膜营养不良的患者的真皮成纤维细胞中生成了人诱导多能干细胞（iPSC）系，该患者携带UBAP1L基因纯合的c.910-7G>A变体。使用CRISPR/Cas9基因编辑技术从这个受影响的细胞系中创建了三个同基因对照iPSC系。所有表达多能性标志物的iPSC系都能够分化为三个胚层，并呈现正常的核型。这些细胞模型将为研究与最近报道的UBAP1L相关的视网膜营养不良相关的疾病机制提供一个强大的工具，并更好地理解该蛋白在视网膜生理学中的作用。
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