Table 1.
Summary of fibroblasts, including donor age and sex, mutation analysis, and functional domain of INSR mutations
| Cell line | Age | Sex | Mutation | Domain |
|---|---|---|---|---|
| C1 (BJ) | Neonatal | M | No mutation | — |
| C2 (GM05400) | 6 years | M | No mutation | — |
| C3 (GM00409) | 7 years | M | No mutation | — |
| IR-M1 (Minn1) | 1 month | F | Arg897→stop (one allele) Unknown mutation (second allele) Exon 14 | β-Subunit (one allele) Decreased expression (second allele) |
| IR-M2 (GM10277) | 15 years | F | Ala2→Gly (both alleles) Exon 1 | α-Subunit Signal sequence L1 domain |
| IR-M3 (GM20034) | 3 months | M | Leu233→Pro (both alleles) Exon 3 | α-Subunit L2 domain |