Description:
                                                    
                                                    
                                                         
                                                            
                                                            CEPH/UTAH PEDIGREE 1331 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
                                                                        | 
                                                                            Repository
                                                                         | 
                                                                        
                                                                            NIGMS Human Genetic Cell Repository
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
	| 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
                                                                         | 
                                                                        
                                                                            Epstein-Barr Virus
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Sample Source
                                                                         | 
                                                                        
                                                                            DNA from LCL
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Race
                                                                         | 
                                                                        
                                                                            White
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Ethnicity
                                                                         | 
                                                                        
                                                                            UTAH/MORMON
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Family Member
                                                                         | 
                                                                        
                                                                            9
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Relation to Proband
                                                                         | 
                                                                        
                                                                            son
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Confirmation
                                                                         | 
                                                                        
                                                                            Clinical summary/Case history
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            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 positive 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 | 
 
	|   | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                             
                                                         
                                                     
                                                 
                                                
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Kadota M, Yang HH, Hu N, Wang C, Hu Y, Taylor PR, Buetow KH, Lee MP, Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genome PLoS genetics3:e81 2006 | 
 
	| PubMed ID: 17511522 | 
 
	|   | 
 
	| Miretti MM, Walsh EC, Ke X, Delgado M, Griffiths M, Hunt S, Morrison J, Whittaker P, Lander ES, Cardon LR, Bentley DR, Rioux JD, Beck S, Deloukas P, A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet76(4):634-46 2005 | 
 
	| PubMed ID: 15747258 | 
 
	|   | 
 
	| Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN, Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet74(6):1111-20 2004 | 
 
	| PubMed ID: 15114531 | 
 
	|   | 
 
	| Bowman ED, Bromeke B, Lensing W, Shields PG, Apolipoprotein E allelic frequency in elderly smokers. Am J Med Genet76(1):32-6 1998 | 
 
	| PubMed ID: 9508061 | 
 
	|   | 
 
	| Campbell CE, Casey G, Goodrich K, Genomic structure of TBX2 indicates conservation with distantly related T-box genes. Mamm Genome9(1):70-3 1998 | 
 
	| PubMed ID: 9434949 | 
 
	|   | 
 
	| 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 | 
 
	|   | 
 
	| Goldman D, O'Brien SJ, Lucas-Derse S, Dean M, Linkage mapping of human polymorphic proteins identified by two-dimensional electrophoresis. Genomics11:875-84 1991 | 
 
	| PubMed ID: 1686020 | 
 
	|   | 
 
	| Greig GM, Parikh S, George J, Powers VE, Willard HF, Molecular cytogenetics of alpha satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms. Cytogenet Cell Genet56:144-8 1991 | 
 
	| PubMed ID: 1675980 | 
 
	|   | 
 
	| Starr T, Wood S, A restriction-fragment-length difference detected by the anonymous probe DXS199 exhibits non-Mendelian inheritance. Am J Hum Genet42:267-70 1988 | 
 
	| PubMed ID: 2893545 | 
 
                                                                
                                                             
                                                            
                                                         
                                                     
                                                 
                                                
                                                
                                                
                                             
                                         
                                     
                                 
                                
                             
                         
                     
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