Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing

Publication date: Available online 23 April 2019Source: Stem Cell ResearchAuthor(s): HaniHosseini Far, Yudha Nur Patria, Ali Motazedian, Andrew G. Elefanty, Edouard G. Stanley, Shireen R. Lamande, John F. BatemanAbstractTo develop a disease model for the human ‘brittle bone’ disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established control iPSC line. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. This iPSC line and the isogenic parental iPSC line will be of use in exploring osteogenesis imperfecta disease mechanisms and therapeutic approaches in vitro.
Source: Stem Cell Research - Category: Stem Cells Source Type: research