Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks


ABSTRACT: Control (CRL2429 C11) and A-T (MC3/AT30) iPSC were differentiated according to Erceg et al to generate cerebellar precursors Examination of changes in gene expression after a 34 day differentiation protocol in control and A-T iPSC

ORGANISM(S): Homo sapiens

SUBMITTER: Othmar Korn 

PROVIDER: E-GEOD-75852 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks.

Nayler Sam P SP   Powell Joseph E JE   Vanichkina Darya P DP   Korn Othmar O   Wells Christine A CA   Kanjhan Refik R   Sun Jian J   Taft Ryan J RJ   Lavin Martin F MF   Wolvetang Ernst J EJ  

Frontiers in cellular neuroscience 20171013


Ataxia-telangiectasia (A-T) is a rare genetic disorder caused by loss of function of the ataxia-telangiectasia-mutated kinase and is characterized by a predisposition to cancer, pulmonary disease, immune deficiency and progressive degeneration of the cerebellum. As animal models do not faithfully recapitulate the neurological aspects, it remains unclear whether cerebellar degeneration is a neurodevelopmental or neurodegenerative phenotype. To address the necessity for a human model, we first ass  ...[more]

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