[Cell Designation細胞株名稱] GENEA052
[Organism物種來源]
[Disease疾病種類]
[Cat Num編號] CVCL_9061
[Comments相關資料] "Part of: Genetic Testing Reference Material (GeT-RM) samples. Part of: Human variation panel. Population: Caucasian. HLA typing: A*26:01:01,66:01:01; B*38:01:01,38:01:01; C*12:03:01,12:03:01; DPA1*01:03:01,01:03:01; DPB1*04:01:01,04:01:01; DQA1*03:01:01,05:05:01; DQB1*03:01:01,03:02:01; DRB1*04:02:01,11:01:01; DRB3*02:02:01; DRB4*01:03:01 (PubMed=29959025). Sequence variation: Mutation; HGNC; 2623; CYP2C9; Simple; p.Arg144Cys (c.430C>T) (416C>T); ClinVar=VCV000008409; Zygosity=Heterozygous; Note=CYP2C9*2 allele (Coriell). Sequence variation: Mutation; HGNC; 2625; CYP2D6; Simple; c.506-1G>A (IVSDS3,G-A,+1); ClinVar=VCV000016889; Zygosity=Heterozygous; Note=Splice acceptor mutation. CYP2D6*4 allele (Coriell). Transformant: Epstein-Barr virus (EBV)(NCBI-Taxonomy; 10376). Omics: DNA methylation analysis. Derived from sampling site: Peripheral blood."
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