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.

Autor:	Almad AA; Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Garcia L; Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Takanohashi A; Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Gagne A; Penn Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States., Yang W; Penn Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States., Ann McGuire J; Department of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., French D; Department of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States., Vanderver A; Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2023 Jun; Vol. 69, pp. 103083. Date of Electronic Publication: 2023 Mar 26.
DOI:	10.1016/j.scr.2023.103083
Abstrakt:	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. Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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