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. 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 6.

Figure 6

Effect of CIC variants on binding of folic acid and cellular folate concentration. (A) Folic acid surface binding by HeLa cells stably expressing GFP, GFP-CIC WT or GFP-CIC p.R353X. Cells were exposed to 5 nmol/L [3H] folic acid binding was calculated relative to GFP transfected cells (n≥3, each carried out in duplicate), **p<0.01. (B) Folate concentration in control iPSCs and family 1 proband iPSCs, *p<0.05.