TABLE 1.
Characterization of the patients and healthy controls individuals used in the study
| Individual | Specimens Used in Experiment: | Age | Sex | LPIN1 Mutation Nucleotides | LPIN1 Mutation Amino Acids |
| Control 1 | s.a.t.b. | 12 | F | WT | WT |
| Control 2 | s.a.t.b. | 15 | F | WT | WT |
| Control 3 | s.a.t.b. | 18 | M | WT | WT |
| Control 4 | s.a.t.b. | 16 | M | WT | WT |
| Control 5 | s.a.t.b. | 4 | M | WT | WT |
| Control 6 | s.a.t.b. | 15 | M | WT | WT |
| Control 7 | s.a.t.b. | 15 | M | WT | WT |
| Control 8 | Skin fibroblast population | 5 | F | WT | WT |
| Control 9 | Skin fibroblast population | 2.5 | M | WT | WT |
| Control 10 | Skin fibroblast population | 8.5 | M | WT | WT |
| Lipin-1-deficient-1 | s.a.t.b. | 5 | M | c.1162C>T | p.Arg388X |
| c.1162C>T | p.Arg388X | ||||
| Lipin-1-deficient-2 | s.a.t.b. | 5 | M | c.1441+2T>C | p.Asn417LysfsX22 |
| c.2295-866_2410-30del | p.Glu766_Ser838del | ||||
| Lipin-1-deficient-3 | s.a.t.b. | 11 | M | c.1441+2T>C | p.Asn417LysfsX22 |
| c.2295-866_2410-30del | p.Glu766_Ser838del | ||||
| Lipin-1-deficient-4 | s.a.t.b. | 47 | M | c.1162C>T | p.Arg388X |
| c.1162C>T | p.Arg388X | ||||
| Lipin-1-deficient-5 | Skin fibroblast population | 4 | F | c.2295-863_2410-27del | p.Glu766_Ser838del |
| c.2295-863_2410-27del | p.Glu766_Ser838del | ||||
| Lipin-1-deficient-6 | Skin fibroblast population | 11.5 | F | c.1441+2T>C | p.Asn417LysfsX22 |
| c.2295-863_2410-27del | p.Glu766_Ser838del | ||||
| Lipin-1-deficient-7 | Skin fibroblast population | 4 | F | c.2295-863_2410-27del | p.Glu766_Ser838del |
| c.921delT | p.Gln308ArgfsX36 |
s.a.t.b., subcutaneous adipose tissue biopsy.