Congenital talipes equinovarus (CTEV) is a congenital malformation affecting approximately 1/700-1/1000 of live borns. To date extensive epidemiological and biological studies have been operated to solve this issue, the most meaningful findings in clubfoot genetics involve PITX1 variants, which were associated with clubfoot phenotype in mice and humans. According to recent studies, the PITX1-TBX4 transcriptional pathway regulatory for early limb development has identified a key developmental pathway in clubfoot etiology by the common disease-rare hypothesis. However, the precise mechanisms causing this disease remain elusive. The pluripotent stem cell line SMBCi018-A will enable proper in vitro disease modeling of CTEV.
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