期刊
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
卷 9, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fcell.2021.682944
关键词
patient-derived cells; craniofacial anomalies; cell bank; quality control; rare diseases; personalized medicine
资金
- Osteology Foundation, Switzerland [19-155]
The high prevalence of congenital anomalies involving the cranio-/orofacial region has led researchers to develop a living cell repository to overcome the limitations of rare conditions and biological differences between rodents and humans. By establishing a human living cell bank derived from discarded tissue samples, researchers aim to provide patient-derived cells with molecular and genetic characteristics for better understanding and management of craniofacial anomalies.
The prevalence of congenital anomalies in newborns is estimated to be as high as 6%, many of which involving the cranio-/orofacial region. Such malformations, including several syndromes, are usually identified prenatally, at birth, or rarely later in life. The lack of clinically relevant human cell models of these often very rare conditions, the societal pressure to avoid the use of animal models and the fact that the biological mechanisms between rodents and human are not necessarily identical, makes studying cranio-/orofacial anomalies challenging. To overcome these limitations, we are developing a living cell repository of healthy and diseased cells derived from the cranio-/orofacial region. Ultimately, we aim to make patient-derived cells, which retain the molecular and genetic characteristics of the original anomaly or disease in vitro, available for the scientific community. We report our efforts in establishing a human living cell bank derived from the cranio-/orofacial region of otherwise discarded tissue samples, detail our strategy, processes and quality checks. Such specific cell models have a great potential for discovery and translational research and might lead to a better understanding and management of craniofacial anomalies for the benefit of all affected individuals.
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