Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV is a rare inherited disorder characterized by intellectual disability and caused by mutations in the gene MCOLN1.
| Donor Condition | Lines Available |
| Mucolipidosis IV (ML4) | Female, 36, MCOLN1: Het. c.785T>C (Asymptomatic Carrier) |
| Female, 10, MCOLN1: Hom. c.406-2A>G | |
| Male, 45, MCOLN1: Het. c.406-2A>G | |
| Male, 7, MCOLN1: Het. c.694A>C p.(T232P); Het. c.785T>C p.(F262S) |