期刊
CRISPR JOURNAL
卷 2, 期 2, 页码 108-120出版社
MARY ANN LIEBERT, INC
DOI: 10.1089/crispr.2018.0048
关键词
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资金
- Fondazione Aiuti per la Ricerca sulle Malattie Rare (ARMR), Bergamo, Italy
- Fondazione Telethon [GGP17221-2017]
Focal segmental glomerulosclerosis (FSGS) is defined by focal (involving few glomeruli) and segmental sclerosis of the glomerular tuft that manifests with nephrotic syndrome. Mutations in genes involved in the maintenance of structure and function of podocytes have been found in a minority of these patients. A family with adult-onset autosomal dominant FSGS was recently found to carry a new germline missense heterozygous mutation (p.G189R) in the octapeptide domain of the transcription factor PAX2. Here, we efficiently corrected this point mutation in patient-derived induced pluripotent stem cells (iPSCs) by means of CRISPR-Cas9-based homology-directed repair. The iPSC lines were differentiated into podocytes, which were tested for their motility. Editing the PAX2 p.G189R mutation restored podocyte motility, which was altered in podocytes derived from patient iPSCs.
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