We thus performed confocal IF analysis using lymphoblastoid cell lines (LCLs) derived from DBA patients carrying mutations causing haploinsufficiency of RPS17, RPL11, or RPS7. These IF experiments, illustrated in Figure 2A, reveal distinct puncta representative of LC3-II incorporation into developing autophagosomes and autolysosomes in all three DBA-derived LCLs compared to very few puncta detected in normal cells (quantified in Figure 2B, N>100, p<0.01). The gene discussed is RPS7; the disease is Diamond-Blackfan anemia.