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
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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) ... ...
