GM12912
                                                
                                                LCL from B-Lymphocyte
                                                
                                                
                                             
                                            
                                                
                                                    
                                                         Description:
                                                    
                                                    
                                                         
                                                            
                                                            CEPH/UTAH PEDIGREE 1582 
                                                            
                                                            CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 
                                                            
                                                            SNP500 PANEL 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
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                                                                            NIGMS Human Genetic Cell Repository
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	| Subcollection | 
	CEPH Repository Linkage Families Pharmacogenetics | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
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                                                                            Biopsy Source
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                                                                            Peripheral vein
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                                                                            Cell Type
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                                                                            B-Lymphocyte
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                                                                            Tissue Type
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                                                                            Blood
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                                                                            Transformant
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                                                                            Epstein-Barr Virus
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                                                                            Sample Source
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                                                                            LCL from B-Lymphocyte
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                                                                            Race
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                                                                            White
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                                                                            Ethnicity
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                                                                            UTAH/MORMON
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                                                                            Family Member
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                                                                            2
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                                                                            Relation to Proband
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                                                                            mother
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                                                                            Confirmation
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                                                                            Clinical summary/Case history
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                                                                            Species
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                                                                            Homo sapiens
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                                                                            Common Name
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                                                                            Human
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                                                                            Remarks
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	| IDENTIFICATION OF SPECIES OF ORIGIN | 
	Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis | 
 
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	| Remarks | 
	Mother; donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)] | 
 
                                                                
                                                             
                                                            
                                                            
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Talal AH, Ding Y, Venuto CS, Chakan LM, McLeod A, Dharia A, Morse GD, Brown LS, Markatou M, Kharasch ED, Toward precision prescribing for methadone: Determinants of methadone deposition PloS one15:e0231467 2019 | 
 
	| PubMed ID: 32302325 | 
 
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	| Bergen AW, Baccarelli A, McDaniel TK, Kuhn K, Pfeiffer R, Kakol J, Bender P, Jacobs K, Packer B, Chanock SJ, Yeager M, Cis sequence effects on gene expression BMC genomics8:296 2007 | 
 
	| PubMed ID: 17727713 | 
 
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	| Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS, Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet33(3):422-5 2003 | 
 
	| PubMed ID: 12567189 | 
 
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	| Haque KA, Pfeiffer RM, Beerman MB, Struewing JP, Chanock SJ, Bergen AW, Performance of high-throughput DNA quantification methods. BMC Biotechnol3(1):20 2003 | 
 
	| PubMed ID: 14583097 | 
 
                                                                
                                                             
                                                            
                                                         
                                                     
                                                 
                                                
                                                
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
	| Split Ratio | 
	1:3 | 
 
	| Temperature | 
	37 C | 
 
	| Percent CO2 | 
	5% | 
 
	| Medium | 
	Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent | 
 
	| Serum | 
	15% fetal bovine serum Not Inactivated | 
 
	| Substrate | 
	None specified | 
 
	| Subcultivation Method | 
	dilution - add fresh medium | 
 
	| Supplement | 
	- | 
 
                                                                
                                                                
                                                             
                                                         
                                                     
                                                 
                                             
                                         
                                     
                                 
                                
                             
                         
                     
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