Skip to main content
. Author manuscript; available in PMC: 2021 Jul 31.
Published in final edited form as: J Med Genet. 2020 Aug 20;58(7):484–494. doi: 10.1136/jmedgenet-2020-106987

Figure 5.

Figure 5

Family 1 proband iPSC’s CIC expression and its regulation on folate transporters. (A) Family 1 proband (F1prob) iPS cell DNA sequencing and cDNA sequencing chromatogram indicated that mutant CIC mRNA was less than wildtype CIC mRNA. (B) qRT-PCR analysis of CIC, FOLR1, PCFT and RFC1 in family 1 proband iPSCs and control iPSCs. (C) Immunoblotting analysis of CIC, FOLR1, PCFT and RFC1 protein expression in F1prob iPSCs and control iPSCs. (D) Quantification of immunoblotting using ImageJ, GAPDH protein amount was used as reference.