RNA-seq of granulocytes derived from control and AK2 depleted human HSPCs
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ABSTRACT: 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). To study the effect of AK2 depletion on HSPC differentiation, we developed a biallelic AK2 CRISPR knock-out model using human HSPCs. AK2 depleted HSPCs display severe proliferation and myeloid differentiation defects, recapitulating RD patient phenotype.
ORGANISM(S): Homo sapiens
PROVIDER: GSE179320 | GEO | 2021/07/06
REPOSITORIES: GEO
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