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For the purpose of analyzing mechanisms related to the cis-diamminedichloroplatinum (CDDP) resistance in head and neck squamous cell carcinoma (head and neck SCC), we employed a nasal squamous cell carcinoma (nasal SCC) cell line RPMI2650 and its CDDP resistant substrain RPMI2650CR previously descri...
ORGANISM(S): Homo sapiens 
Data Access Committee EGAC01000000005
10X VisiumHD spatial transcriptomics of epipharynx from three patients with long COVID and two control individuals without COVID-19.
ORGANISM(S): Homo sapiens 
We performed whole-exome sequencing of two Fanconi anemia patients without mutation of known FA genes, and identified a novel FA gene FANCT.
Diamond–Blackfan anemia (DBA), is a rare congenital anemia that usually presents in infancy. About fifty percent of DBA patients possess mutations in ribosomal protains (RPs). In this study, we performed genomic copy number analysis using SNP arrays for 27 Japanese DBA patients to detect genomic c...
DBA case samples using 250K Nsp
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an IL-1-driven autoinflammatory disorder caused mainly by NLRP3 mutations. The pathogenesis of CINCA syndrome patients who carry NLRP3 mutations as somatic mosaicism has not been precisely described because of the difficulty ...
ORGANISM(S): Homo sapiens 
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