Single cell transcriptome profiling of Reticular Dysgenesis patient bone marrow - - GEO DataSets

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Single cell transcriptome profiling of Reticular Dysgenesis patient bone marrow

(Submitter supplied) Reticular Dysgenesis (RD) is a rare but devastating form of severe combined immunodeficiency, characterized by a maturation arrest of the myeloid and lymphoid lineages paired with sensorineural hearing loss. RD is caused by biallelic loss-of-function mutations in the mitochondrial enzyme adenylate kinase 2 (AK2). Understanding the gene expression impact of AK2 loss-of-function on a single cell level would not only allow us to develop rational therapies for RD and other mitochondrial diseases but enable us to reconstruct metabolic changes that occur during development and how they impact cell fate decisions.

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18573
3 Samples

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Accession:: GSE179346

ID:: 200179346

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"disease state"[All Fields] AND "Homo Sapiens"[porgn] AND ("Senso... (1)
"disease state"[All Fields] AND "Homo Sapiens"[porgn] AND ("Sensorineural Hearing Loss"[MeSH Terms] OR "Sensorineural Hearing Loss"[All Fields]) AND ("gds"[Filter] OR "gse"[Filter] OR "gsm"[Filter]) AND ("Expression profiling by array"[Filter] OR Expression profiling by high throughput sequencing[Filter])
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GEO DataSets
Single cell transcriptome profiling of Reticular Dysgenesis patient bone marrow
Single cell transcriptome profiling of Reticular Dysgenesis patient bone marrow
Accession: GSE179346

GEO DataSets

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