Description:
                                                    
                                                    
                                                         
                                                            
                                                            CEPH/UTAH PEDIGREE 1362 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
                                                                        | 
                                                                            Repository
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                                                                            NIGMS Human Genetic Cell Repository
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	| Subcollection | 
	CEPH Repository Linkage Families | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
	| Quantity | 
	25 µg | 
 
	| Quantitation Method | 
	Please see our FAQ | 
 
                                                                
                                                                    
                                                                        | 
                                                                            Biopsy Source
                                                                         | 
                                                                        
                                                                            Peripheral vein
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Cell Type
                                                                         | 
                                                                        
                                                                            B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Tissue Type
                                                                         | 
                                                                        
                                                                            Blood
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Transformant
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                                                                            Epstein-Barr Virus
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Sample Source
                                                                         | 
                                                                        
                                                                            DNA from LCL
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Race
                                                                         | 
                                                                        
                                                                            White
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Ethnicity
                                                                         | 
                                                                        
                                                                            UTAH/MORMON
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Family Member
                                                                         | 
                                                                        
                                                                            12
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Relation to Proband
                                                                         | 
                                                                        
                                                                            daughter
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Confirmation
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                                                                            Clinical summary/Case history
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                                                                        | 
                                                                            Species
                                                                         | 
                                                                        
                                                                            Homo sapiens
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Common Name
                                                                         | 
                                                                        
                                                                            Human
                                                                         | 
                                                                     
                                                                
                                                               
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            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 | 
 
	|   | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                             
                                                         
                                                     
                                                 
                                                
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Pant PV, Tao H, Beilharz EJ, Ballinger DG, Cox DR, Frazer KA, Analysis of allelic differential expression in human white blood cells Genome research16:331-9 2006 | 
 
	| PubMed ID: 16467561 | 
 
	|   | 
 
	| Norman PJ, Cook MA, Carey BS, Carrington CV, Verity DH, Hameed K, Ramdath DD, Chandanayingyong D, Leppert M, Stephens HA, Vaughan RW, SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex Immunogenetics56:225-37 2004 | 
 
	| PubMed ID: 15185041 | 
 
	|   | 
 
	| Lovmar L, Fredriksson M, Liljedahl U, Sigurdsson S, Syvanen AC, Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res31(21):e129 2003 | 
 
	| PubMed ID: 14576329 | 
 
	|   | 
 
	| Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS, Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. Am J Hum Genet70(5):1172-82 2002 | 
 
	| PubMed ID: 11951176 | 
 
	|   | 
 
	| Brzustowicz LM, Gardner JP, Hopp L, Jeanclos E, Ott J, Yang XY, Fekete Z,Aviv A, Linkage analysis using platelet-activating factor Ca2+ response in transformed
lymphoblasts. Hypertension29(1 Pt 2):158-64 1997 | 
 
	| PubMed ID: 9039096 | 
 
	|   | 
 
	| Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Falk C, Goudie D, Gusella J, Haines J, et al, CEPH consortium Map of chromosome 9. Genomics19:203-14 1994 | 
 
	| PubMed ID: 8188250 | 
 
                                                                
                                                             
                                                            
                                                         
                                                     
                                                 
                                                
                                                
                                                
                                             
                                         
                                     
                                 
                                
                             
                         
                     
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