Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing
2019
Abstract To develop a disease model for the human ‘
brittle bone’
disease,
osteogenesis imperfecta, we have used gene editing to produce a
facsimileof 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 imperfectadisease mechanisms and
therapeutic approachesin vitro .
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