Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A.

Abstract excerpt

A de novo variant, c.1172G > A (p. Arg391His) inTUBB4A causes late infantile TUBB4A-associated leukodystrophy with MRI features of isolated hypomyelination. To model and understand the disease pathology, we generated three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of affected individuals using Sendai viral-mediated reprogramming under feeder-free conditions. All lines...

Topics

• Humans
• Induced Pluripotent Stem Cells
• Tubulin
• Mutation
• Cell Differentiation