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[Generation of skin-derived iPSCs from an Osteogenesis imperfecta patient carrying WNT1c.677C>T mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2024

Du Songjie, Guan Xin, Zhang Meili, Zhao Xiuli, Huang Yue

Abstract excerpt

OBJECTIVE: To obtain skin-derived induced pluripotent stem cells (iPSCs) from an Osteogenesis imperfecta (OI) patient carrying WNT1c.677C>T mutation in order to provide a new cell model for investigating the underlying molecular mechanism and stem cell therapy for OI. METHODS: The pathogenic variant of the patient was identified by Sanger sequencing. With informed consent from the patient, skin tissue was...

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Identifiers

PMID: 38171557
DOI: 10.3760/cma.j.cn511374-20230413-00210

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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