GM06816
                                                
                                                LCL from B-Lymphocyte
                                                
                                                
                                             
                                            
                                                
                                                    
                                                         Description:
                                                    
                                                    
                                                         
                                                            
                                                            HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
                                                                        | 
                                                                            Repository
                                                                         | 
                                                                        
                                                                            NIGMS Human Genetic Cell Repository
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
	| Subcollection | 
	Heritable Diseases | 
 
                                                                
                                                                
                                                                
                                                                
	| Alternate IDs | 
	GM17002 [HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880] | 
 
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Biopsy Source
                                                                         | 
                                                                        
                                                                            Peripheral vein
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Cell Type
                                                                         | 
                                                                        
                                                                            B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Tissue Type
                                                                         | 
                                                                        
                                                                            Blood
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Transformant
                                                                         | 
                                                                        
                                                                            Epstein-Barr Virus
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Sample Source
                                                                         | 
                                                                        
                                                                            LCL from B-Lymphocyte
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Race
                                                                         | 
                                                                        
                                                                            White
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Ethnicity
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                                                                            DUTCH
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Relation to Proband
                                                                         | 
                                                                        
                                                                            proband
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Confirmation
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                                                                            Clinical summary/Case history
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                                                                        | 
                                                                            Species
                                                                         | 
                                                                        
                                                                            Homo sapiens
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Common Name
                                                                         | 
                                                                        
                                                                            Human
                                                                         | 
                                                                     
                                                                
                                                               
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Remarks
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	| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME | 
	PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. | 
 
	|   | 
 
	| IDENTIFICATION OF SPECIES OF ORIGIN | 
	Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis | 
 
	|   | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                             
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Remarks | 
	Homozygous HLA type: A2,Bw38,Dw6,DRw6,& SB2,4; product of consanguineous (first cousin) marriage; line WVD | 
 
                                                                
                                                             
                                                            
                                                            
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 | 
 
	| PubMed ID: 12517831 | 
 
	|   | 
 
	| Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R,
Chakravarti A, Patterns of single-nucleotide polymorphisms in candidate genes for
blood-pressure homeostasis. Nat Genet22(3):239-47 1999 | 
 
	| PubMed ID: 10391210 | 
 
                                                                
                                                             
                                                            
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
	| Gene Cards | 
	HLA-A | 
 
	 | 
	HLA-DPA1 | 
 
	 | 
	HLA-DRA | 
 
	| Gene Ontology | 
	GO:0005887 integral to plasma membrane | 
 
	 | 
	GO:0006955 immune response | 
 
	 | 
	GO:0019883 antigen presentation, endogenous antigen | 
 
	 | 
	GO:0019884 antigen presentation, exogenous antigen | 
 
	 | 
	GO:0019885 antigen processing, endogenous antigen via MHC class I | 
 
	 | 
	GO:0019886 antigen processing, exogenous antigen via MHC class II | 
 
	 | 
	GO:0030106 MHC class I receptor activity | 
 
	 | 
	GO:0045012 MHC class II receptor activity | 
 
	| NCBI Gene | 
	Gene ID:3105 | 
 
	 | 
	Gene ID:3113 | 
 
	 | 
	Gene ID:3122 | 
 
	| NCBI GTR | 
	142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A | 
 
	 | 
	142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA | 
 
	 | 
	142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 | 
 
	| OMIM | 
	142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A | 
 
	 | 
	142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA | 
 
	 | 
	142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 | 
 
	| Omim Description | 
	HLA-A HISTOCOMPATIBILITY TYPE | 
 
	|   | 
	MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A | 
 
	|   | 
	HLA-DR HISTOCOMPATIBILITY TYPE; HLA-DRA | 
 
	|   | 
	MAJOR HISTOCOMPATIBILITY COMPLEX II, DR ALPHA; HLA-DRA1 | 
 
	|   | 
	HLA-SB HISTOCOMPATIBILITY TYPE; HLASB; HLADP | 
 
	|   | 
	MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 | 
 
                                                                
                                                             
                                                         
                                                     
                                                 
                                                
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
	| Split Ratio | 
	1:2 | 
 
	| 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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