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. 2020 Aug 31;130(10):5272–5286. doi: 10.1172/JCI134966

Figure 4. Effect of compound heterozygous mutations.

Figure 4

Primary fibroblasts from the patient were generated by SV-40 large T antigen transformation. (A) Cells were fractionated as described in Methods, and nuclear and cytoplasmic fractions were probed for MCM10, lamin B1, and α-tubulin. (B) Chromatin fractionation was performed with increasing stringency of salt concentrations (0.15M, 0.3M) from patient fibroblasts immortalized by SV-40 large T antigen transduction. Lysates were probed for MCM10, lamin B1, or actin as a loading control. Intensity of bands from 0.3M condition is quantified relative to loading control. Data are represented as mean ± SD from 3 technical replicates performed on different days. MW, molecular weight marker; HD, healthy donor; Pt, patient.