Sanger sequencing on different cell types from the patient and healthy controls. (A) Sanger sequencing of the patient mutation on genomic DNA. (B) Example of TOPO-TA cloning results from RT-PCR products encompassing the two mutations of the patient; the frequency of the corresponding sequence is written on the right. (C) Relative quantity of CHUK mRNA in SV40-fibroblast from patient and controls assessed by RT-qPCR.