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Table 1 Summary of subtyping analysis

From: Subtyping Analysis of Fanconi Anemia by Immunoblotting and Retroviral Gene Transfer

   

Immunoblot Results b

Retroviral Transduction c

 

Cell Name

FA Typea

FAA Protein

FAC Protein

FAA Corrected

FAC Corrected

Lymphoblasts

HSC72

A

+

+

 

HSC536*

C

+

+

 

PD4510

C

+

  
 

PD153

C

+

  
 

PD4

C

+

  
 

HSC62

D

+

+

 

PD20

D

+

+

 

PD36

A

+

+

+

 

VU337

A

+

  
 

VU373

A

+

+

  
 

EUFA007

A

+

+

+

 

EUFA275

A

+

  
 

EUFA444

A

+

  
 

EUFA445

A

+

  
 

EUFA471

A

+

  
 

PD9

A

+

  
 

PD45

A

+

  
 

PD56

A

+

  
 

PD113

A

+

  
 

HSC230

B

+

+

  
 

EUFA130

E

+

+

  

Fibroblasts

PD426

C

+

+

 

PD123

C

+

+

 

PD303

A

+

+

 

PD320

A

+

+

 

PD473

Ad

+

+

  1. aFA subtype was determined by somatic cell fusion or by direct genotype analysis (see text).
  2. bPlus (+) sign indicates the presence of full-length protein by immunoblot analysis. (*) HSC536 cells express a full-length FAC protein with a L554P mutation.
  3. cPlus (+) sign indicates the correction of mitomycin C sensitivity by retroviral-mediated transduction. Correction of MMC sensitivity of lymphoblasts was measured by the XTT assay. Correction of MMC sensitivity of fibroblasts was measured by G2 accumulation. Minus (−) sign indicates no correction.
  4. dThis patient is listed as FA-A based on immunoblot analysis, correction of G2 accumulation, and increased bone marrow progenitor clonigenicity after gene transfer.