AG28585
                                                
                                                iPSC from Fibroblast
                                                
                                                
                                             
                                            
                                                
                                                    
                                                         Description:
                                                    
                                                    
                                                         
                                                            
                                                            COCKAYNE SYNDROME TYPE A - 216400 
                                                            
                                                    
                                                 
                                                
                                                
                                                
                                                
                                             
                                         
                                     
                                    
                                        
                                            
                                            
                                            
                                            
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
                                                                    
                                                                        | 
                                                                            Repository
                                                                         | 
                                                                        
                                                                            NIA Aging Cell Culture Repository
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	| Subcollection | 
	Heritable Diseases | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
	| Protocols | 
	Protocol PDF | 
 
                                                                
                                                                    
                                                                        | 
                                                                            Biopsy Source
                                                                         | 
                                                                        
                                                                            Skin
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Cell Type
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                                                                            Stem cell
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                                                                        | 
                                                                            Cell Subtype
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                                                                            Induced pluripotent stem cell
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                                                                        | 
                                                                            Transformant
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                                                                            Reprogrammed (Sendai)
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                                                                        | 
                                                                            Sample Source
                                                                         | 
                                                                        
                                                                            iPSC from Fibroblast
                                                                         | 
                                                                     
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Race
                                                                         | 
                                                                        
                                                                            White
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Family Member
                                                                         | 
                                                                        
                                                                            1
                                                                         | 
                                                                     
                                                                
                                                                
                                                                
                                                                
                                                                    
                                                                        | 
                                                                            Relation to Proband
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                                                                            proband
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                                                                        | 
                                                                            Confirmation
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                                                                            Clinical summary/Case history
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                                                                        | 
                                                                            ISCN
                                                                         | 
                                                                        
                                                                            46,XY[20]
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                                                                        | 
                                                                            Species
                                                                         | 
                                                                        
                                                                            Homo sapiens
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                                                                        | 
                                                                            Common Name
                                                                         | 
                                                                        
                                                                            Human
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                                                                        | 
                                                                            Remarks
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	| Passage Frozen | 
	17 | 
 
	|   | 
 
                                                                
	| Induced Pluripotent Stem Cell | 
	The parental cell line was recovered  reprogrammed to an induced pluripotent stem cell line  and expanded. The expanded line was evaluated for viability  surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. | 
 
	|   | 
 
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                                
                                                             
                                                         
                                                     
                                                 
                                                
                                                    
                                                        
                                                            
                                                            
                                                            
                                                                
	| Remarks | 
	The donor has clinical features of developmental delay, growth retardation, wasting of subcutaneous tissue, pin-point pupils which do not appear to react significantly to light, muscular atrophy present throughout extremities, and marked scissoring of legs along with marked dysmetria in the leg movements. A skin fibroblast culture from donor's mother is AG10215. Researchers purchasing hiPSCs from the NIA Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. | 
 
                                                                
                                                             
                                                            
                                                            
                                                         
                                                     
                                                 
                                                
                                                
                                                
                                                
                                                    
                                                        
                                                            
                                                            
                                                                
	| Passage Frozen | 
	17 | 
 
	| Split Ratio | 
	1:5 | 
 
	| Temperature | 
	37 C | 
 
	| Percent CO2 | 
	5% | 
 
	| Percent O2 | 
	AMBIENT | 
 
	| Medium | 
	mTeSR1 | 
 
	| Serum | 
	 none Not inactivated           | 
 
	| Substrate | 
	Matrigel | 
 
	| Supplement | 
	- | 
 
                                                                
                                                                
                                                             
                                                         
                                                     
                                                 
                                             
                                         
                                     
                                 
                                
                             
                         
                     
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