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RNA-seq of AMFR mutant human in vitro differentiated neural stem cells
We report transcriptome analysis of human in vitro differentiated neural stem cells (derived from H9 human embryonic stem cells), comparing wild type and AMFR homozygous knock-out mutant cells. To model a novel genetic disorder caused by bi-allelic loss-of-function variants in AMFR and to study the ...
ORGANISM(S): Homo sapiens 
2023-04-29 | GSE202141 | GEO
ER-resident membrane-shaping proteins with central reticulon homology domains (RHDs) have been associated with neurodegenerative disorders such as ARL6IP1 and FAM134B.Mutations in ARL6IP1 cause SPG61, a neurodegenerative disorder characterized by progressive leg spasticity (hereditary spastic parapl...
ORGANISM(S): Homo sapiens (Human) 
2023-06-19 | PXD039184 | Pride
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