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

To 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...

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Published inStem cell research Vol. 37; p. 101449
Main Authors Hosseini Far, Hani, Patria, Yudha Nur, Motazedian, Ali, Elefanty, Andrew G., Stanley, Edouard G., Lamandé, Shireen R., Bateman, John F.
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.05.2019
Elsevier
Subjects
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Collagen Type I - genetics
CRISPR-Cas Systems
Gene Editing
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
Leukocytes, Mononuclear - metabolism
Leukocytes, Mononuclear - pathology
Male
Middle Aged
Mutation
Osteogenesis Imperfecta - genetics
Osteogenesis Imperfecta - pathology
Phenotype
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Summary:To 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.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101449