Table 2.
Junctions and replication timing phenotypes of HTD114-derived cell clones with CRISPR/Cas9-mediated disruptions in ASAR6 L1PA2, chromosome 6: 96,206,263–96,212,288 (Feb 2009 [GRCh37/hg19])
Cell clonesPhenotypeaAllele A (expressed)bAllele B (silent)b
Single deletion    
L1PA2_3.05 DRT 96,206,086–96,212,320 Wild type 
L1PA2_94.04 Normal Wild type 96,206,107–96,212,320 
L1PA2_p3.15 Normal Wild type 96,206,090–96,212,321 
L1PA2_p3.16 Normal Wild type 96,206,090–96,212,321 
Single inversion    
L1PA2_p3.18 DRT Left junction: (+)96,206,092–(−) 96,212,319  Wild type 
L1PA2_p3.24 DRT Right junction: (−)96,206,109–AAATATTGGCC–(+)96,212,320c Wild type 
L1PA2_p3.25 DRT   
L1PA2-16Di_1B Normal Wild type Left junction: (+)96,206,097–(−) 96,212,315d 
L1PA2-16Di_1E Normal  Right junction: (−)96,206,109–(+)96,212,320 
L1PA2-16Di_2D Normal   
Deletion/inversion    
L1PA2_p3.16.15.65 DRT Left junction: (+)96,206,092–(−)96,212,319e 96,206,090–96,212,321 
  Right junction: (−)96,206,090–(+)96,212,321  
L1PA2_p11 DRT 96,206,107–96,212,320 Left junction: (+)96,207,107–(−) 96,212,319 
   Right junction: (−)96,206108–(+) 96,212,320 
Double deletion    
L1PA2_p3.16.15.44 DRT 96,206,107–96,212,332 96,206,090–96,212,321 
L1PA2_p3.16.15.45 DRT   
L1PA2_p3.16.15.61 DRT   
L1PA2_p3.16.15.63 DRT   
Cell clonesPhenotypeaAllele A (expressed)bAllele B (silent)b
Single deletion    
L1PA2_3.05 DRT 96,206,086–96,212,320 Wild type 
L1PA2_94.04 Normal Wild type 96,206,107–96,212,320 
L1PA2_p3.15 Normal Wild type 96,206,090–96,212,321 
L1PA2_p3.16 Normal Wild type 96,206,090–96,212,321 
Single inversion    
L1PA2_p3.18 DRT Left junction: (+)96,206,092–(−) 96,212,319  Wild type 
L1PA2_p3.24 DRT Right junction: (−)96,206,109–AAATATTGGCC–(+)96,212,320c Wild type 
L1PA2_p3.25 DRT   
L1PA2-16Di_1B Normal Wild type Left junction: (+)96,206,097–(−) 96,212,315d 
L1PA2-16Di_1E Normal  Right junction: (−)96,206,109–(+)96,212,320 
L1PA2-16Di_2D Normal   
Deletion/inversion    
L1PA2_p3.16.15.65 DRT Left junction: (+)96,206,092–(−)96,212,319e 96,206,090–96,212,321 
  Right junction: (−)96,206,090–(+)96,212,321  
L1PA2_p11 DRT 96,206,107–96,212,320 Left junction: (+)96,207,107–(−) 96,212,319 
   Right junction: (−)96,206108–(+) 96,212,320 
Double deletion    
L1PA2_p3.16.15.44 DRT 96,206,107–96,212,332 96,206,090–96,212,321 
L1PA2_p3.16.15.45 DRT   
L1PA2_p3.16.15.61 DRT   
L1PA2_p3.16.15.63 DRT   
a

Replication timing was measured by BrdU incorporation into chromosomes. DRT, delayed replication timing.

b

Identities of affected alleles were determined by PCR and sequencing of the heterozygous SNP, rs9375937.

c

Chromosome 6 bases 96,206,093–96,206,108 were deleted and an 11-bp duplication was created.

d

Chromosome 6 bases 96,206,098–96,206,108 and 96,212,316–96,212,319 were deleted.

e

Chromosome 6 bases 96,206,091 and 96,212,320 were deleted.

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