Description:
                                                    
                                                    
                                                         
                                                            
                                                            CEPH/VENEZUELAN PEDIGREE 102 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
                                                                        | 
                                                                            Repository
                                                                         | 
                                                                        
                                                                            NIGMS Human Genetic Cell Repository
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
	| Subcollection | 
	CEPH Repository Linkage Families | 
 
                                                                
                                                                
                                                                
                                                                
	| Alternate IDs | 
	GM17319 [CEPH/VENEZUELAN PEDIGREE 102] | 
 
                                                                
                                                                
	| Quantity | 
	25 µg | 
 
	| Quantitation Method | 
	Please see our FAQ | 
 
                                                                
                                                                    
                                                                        | 
                                                                            Biopsy Source
                                                                         | 
                                                                        
                                                                            Peripheral vein
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Cell Type
                                                                         | 
                                                                        
                                                                            B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Tissue Type
                                                                         | 
                                                                        
                                                                            Blood
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Transformant
                                                                         | 
                                                                        
                                                                            Epstein-Barr Virus
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Sample Source
                                                                         | 
                                                                        
                                                                            DNA from LCL
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Race
                                                                         | 
                                                                        
                                                                            White
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Ethnicity
                                                                         | 
                                                                        
                                                                            VENEZUELAN
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Family Member
                                                                         | 
                                                                        
                                                                            2
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Relation to Proband
                                                                         | 
                                                                        
                                                                            mother
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Confirmation
                                                                         | 
                                                                        
                                                                            Clinical summary/Case history
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            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 | 
 
	|   | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                             
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Remarks | 
	Mother Same as 104-16 | 
 
                                                                
                                                             
                                                            
                                                            
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Feuk L, Macdonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW, Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet1(4):e56 2005 | 
 
	| PubMed ID: 16254605 | 
 
	|   | 
 
	| Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M, Large-scale copy number polymorphism in the human genome. Science305(5683):525-8 2004 | 
 
	| PubMed ID: 15273396 | 
 
	|   | 
 
	| 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 | 
 
                                                                
                                                             
                                                            
                                                         
                                                     
                                                 
                                                
                                                
                                                
                                             
                                         
                                     
                                 
                                
                             
                         
                     
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