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Expression data from human lymphoblastoid cell lines (LCLs)

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NIAID Data Ecosystem2026-03-13 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE192767
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The X-linked alpha thalassaemia intellectual disability syndrome (ATRX) protein is a member of the SWI/SNF family of chromatin remodelling factors which acts as an ATP dependent molecular motor. Germline mutations in ATRX give rise to a severe form of syndromal intellectual disability (ATR-X syndrome). To date, only a small number of genes have been identified that are affected by pathogenic ATRX mutations in human. We performed microarray experiments on LCLs from normal individuals and patients with diverse pathogenic ATRX mutations, to identify more genes regulated by ATRX. We used 20 LCLs from unaffected individuals and 28 LCLs from patients for RNA extraction and hybridization on Affymetrix microarrays.
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2022-06-27
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