Table 1.

Characteristics of fibroblast cell lines from the control and patients with the respective mutations, genotypes, and protein-trafficking phenotypes.

Patient (P)	Mutation		Inheritance Pattern (Genotype)
	cDNA	Protein
Patient 1	c.3182T>C c.3337C>T	p.I1061T p.P887L	Compound heterozygous
Patient 2	c.3467A>G	p.N1156S	Heterozygous
Patient 3	c.3493G>A c.3591+121C>T	p.V1165M p.0	Compound heterozygous
Patient 4	c.3797G>A	p.R1266Q	Homozygous