GM17552
                                                
                                                LCL from B-Lymphocyte
                                                
                                                
                                             
                                            
                                                
                                                    
                                                         Description:
                                                    
                                                    
                                                         
                                                            
                                                            IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
                                                                        | 
                                                                            Repository
                                                                         | 
                                                                        
                                                                            NIGMS Human Genetic Cell Repository
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
	| Subcollection | 
	Heritable Diseases | 
 
                                                                
                                                                
                                                                
	| Class | 
	Disorders of Uncertain Biochemical Etiology | 
 
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Biopsy Source
                                                                         | 
                                                                        
                                                                            Peripheral vein
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Cell Type
                                                                         | 
                                                                        
                                                                            B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Tissue Type
                                                                         | 
                                                                        
                                                                            Blood
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Transformant
                                                                         | 
                                                                        
                                                                            Epstein-Barr Virus
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Sample Source
                                                                         | 
                                                                        
                                                                            LCL from B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Race
                                                                         | 
                                                                        
                                                                            White
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Relation to Proband
                                                                         | 
                                                                        
                                                                            proband
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            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 | 
	Line LAZ187; at age 7 patient had recurrent pyogenic infections; IgG<100mg/dl; IgM>50mg/dl (sometimes as high as 200); IgA<50mg/dl; the cells express surface IgM and IgD, but not IgG | 
 
                                                                
                                                             
                                                            
                                                            
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Schwaber JF, Rosen FS, Isotypes of surface immunoglobulin on B lymphocytes from patients with immune deficiency. J Clin Immunol2(1):30-4 1982 | 
 
	| PubMed ID: 6980225 | 
 
	|   | 
 
	| Schwaber JF, Lazarus H, Rosen FS, IgM-restricted production of immunoglobulin by lymphoid cell lines from patients with immunodeficiency with hyper IgM (dysgammaglobulinemia). Clin Immunol Immunopathol19(1):91-7 1981 | 
 
	| PubMed ID: 7011617 | 
 
                                                                
                                                             
                                                            
                                                         
                                                     
                                                 
                                                
                                                
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
	| Split Ratio | 
	1:5 | 
 
	| 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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