Expression of a patient-derived mutant form of FANCC (L554P) is regulated identically to the wild-type isoform.

293 NEO, 293 FANCC, or 293 L554P cells were grown in the presence (HU 24H) or absence (Asynch.) of 1.3 mmol/L HU for 24 hours. Whole-cell extracts were prepared and analyzed by Western blotting using a monoclonal antibody specific for the L554P FANCC isoform (13F5). The L554P isoform is recognized in asynchronous 293 L554P cells, but no endogenous (293 NEO) or exogenous (293 FANCC) wild-type FANCC is detected using this antibody. Synchronization with HU markedly decreases expression of the mutant isoform in 293 L554P cells.