Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.

• Tubulin beta 4A (TUBB4A) is a brain-specific β-tubulin. • β- and α-tubulins dimerize forming microtubules, critical to cell development. • Severe TUBB4A mutations result in progressive motor and cognitive decline. • Generated patient-derived iPSCs exhibit hallmark pluripotency characteristics. • iPSC derived cells serve as an in vitro model to study mechanisms and therapeutics. Mutations in tubulin alpha 4a (TUBB4A) result in a spectrum of leukodystrophies, including Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC), resulting from a recurring mutation p.Asp249Asn (TUBB4A^D249N). H-ABC presents with dystonia, motor and cognitive impairment and pathological features of hypomyelination and loss of cerebellar and striatal neurons. We have generated three induced pluripotent stem cell (iPSC) lines from fibroblast and peripheral blood mononuclear cells (PBMCs) of individuals with TUBB4A^D249N mutation. The iPSCs were assessed to confirm a normal karyotype, pluripotency, and trilineage differentiation potential. The iPSCs will allow for disease modeling, understanding mechanisms and testing of therapeutic targets. [ABSTRACT FROM AUTHOR]