GM08228
                                                
                                                LCL from B-Lymphocyte
                                                
                                                
                                             
                                            
                                                
                                                    
                                                         Description:
                                                    
                                                    
                                                         
                                                            
                                                            MARFAN SYNDROME; MFS 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
                                                                        | 
                                                                            Repository
                                                                         | 
                                                                        
                                                                            NIGMS Human Genetic Cell Repository
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
	| Subcollection | 
	Heritable Diseases | 
 
                                                                
                                                                
                                                                
	| Class | 
	Disorders of Connective Tissue, Muscle, and Bone | 
 
                                                                
	| Alternate IDs | 
	GM17227 [MARFAN SYNDROME; MFS] | 
 
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Biopsy Source
                                                                         | 
                                                                        
                                                                            Peripheral vein
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Cell Type
                                                                         | 
                                                                        
                                                                            B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Tissue Type
                                                                         | 
                                                                        
                                                                            Blood
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Transformant
                                                                         | 
                                                                        
                                                                            Epstein-Barr Virus
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Sample Source
                                                                         | 
                                                                        
                                                                            LCL from B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Race
                                                                         | 
                                                                        
                                                                            White
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Ethnicity
                                                                         | 
                                                                        
                                                                            WELSH
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Family Member
                                                                         | 
                                                                        
                                                                            10
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Relation to Proband
                                                                         | 
                                                                        
                                                                            maternal cousin
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            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 | 
	Clinically unaffected | 
 
                                                                
                                                             
                                                            
                                                            
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Tsipouras P, Borresen AL, Bamforth S, Harper PS, Berg K, Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet30(5):428-32 1986 | 
 
	| PubMed ID: 2879657 | 
 
                                                                
                                                             
                                                            
                                                         
                                                     
                                                 
                                                
                                                
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
	| 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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