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Identification of a Family with van der Hoeve's syndrome Harboring a Novel COL1A1 Mutation and Generation of Patient-Derived iPSC Lines and CRISPR/Cas9-Corrected Isogenic iPSCs

2023-09-13

Abstract excerpt

<title>Abstract</title> <p>Van der Hoeve's syndrome, also known as osteogenesis imperfecta (OI), is a genetic connective tissue disorder characterized by fragile, fracture-prone bone and hearing loss. The disease is caused by a gene mutation in one of the two type I collagen genes COL1A1 or COL1A2. In this study, we identified a novel frameshift mutation of the COL1A1 gene (c.1607delG) in a family with OI using w...

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Literature Corpus work
183eabd0-1286-5f3b-8dbb-623b258aefe2
DOI
10.21203/rs.3.rs-3299861/v1
Open publication

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Identification of a Family with van der Hoeve's syndrome Harboring a Novel COL1A1 Mutation and Generation of Patient-Derived iPSC Lines and CRISPR/Cas9-Corrected Isogenic iPSCsDOI 10.21203/rs.3.rs-3299861/v1
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