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Series GSE133414 Query DataSets for GSE133414
Status Public on Dec 31, 2021
Title A Congenital Anemia Dissociates the Pleiotropic Functions of Master Transcription Factor GATA1 [Patient_RNAseq]
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Master regulators, such as the hematopoietic transcription factor GATA1, have numerous roles in lineage commitment and differentiation. While human GATA1 mutations result in several blood diseases, all characterized mutations act relatively early to impair hematopoietic differentiation. Here, we describe a distinct form of hemolytic anemia involving impaired terminal erythropoiesis with a reduced lifespan of circulating red blood cells. We show that this unique blood disorder results from mutations in a poorly characterized and intrinsically disordered C-terminal region of GATA1.
Overall design Human bone marrow mononuclear cells from a patient carrying the GATA1 p.R307C mutation were transduced with the HMD lentiviral vector encoding human wildtype GATA1 or point mutants p.R307C or p.R307H
Contributor(s) Ludwig L, Lareau C
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Submission date Jun 27, 2019
Last update date Jan 01, 2022
Contact name Caleb Lareau
Organization name Memorial Sloan Kettering
Street address 417 E 68th St, Zuckerman - ZRC 1132
City New York
State/province New York
ZIP/Postal code 10065
Country USA
Platforms (1)
GPL18573 Illumina NextSeq 500 (Homo sapiens)
Samples (8)
GSM3908374 Patient-HMD_rep1
GSM3908375 Patient-HMD_rep2
GSM3908376 Patient-R307C_rep1
This SubSeries is part of SuperSeries:
GSE133417 A Congenital Anemia Dissociates the Pleiotropic Functions of Master Transcription Factor GATA1
BioProject PRJNA551427
SRA SRP212179

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Supplementary file Size Download File type/resource
GSE133414_Patient_rnaseq_countsTable.tsv.gz 667.1 Kb (ftp)(http) TSV
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