Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
J. Clin. Invest. Carlo Colombo, et al. 118:2148 doi:10.1172/JCI33777 [
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Figure 5Viability of transfected INS-1E cells. Shown is the viability of INS-1E cells at 48 and 96 h after transfection with WT human (pro)insulin,
hAkita mutation, human familial hyper(pro)insulinemia mutation R65L, and human MDI mutations R65C, C
A6Y, L
B15Y
B16delinsH, L
B6P, L
B11P, and Y
A19X. Human (pro)insulin was detected by monoclonal antibody directed toward the human C-peptide and C terminus of the B-chain of the (pro)insulin molecule. Few (L
B6P and L
B11P) or no (
hAkita, R65C, C
A6Y, L
B15Y
B16delinsH, and Y
A19X) INS-1E cells expressing MDI mutations were visible 96 h after transfection.