MKS1 and Meckel syndrome, type 1: We derived immortalised dermal fibroblasts from a human MKS patient, carrying compound heterozygous MKS1 mutations [c.472C > T]+[IVS15-7_35del29] causing the predicted nonsense and splice-site null mutations [p.R158*]+[p.P470fs*562] (Khaddour et al., 2007; Figure 1—figure supplement 1a) leading to loss of MKS1 protein (Figure 1—figure supplement 1b-c).