Table 1.

Genomic status of STAG2, CDKN2A, and TP53 in Ewing sarcoma cell lines

Cell lineSTAG2aCDKN2AaTP53a
EW-3p.R216*WTWT
EW-22p.T463_L464fsWTbp.R175H
EW-23p.R807fsWTp.R273C
MHH-ES1p.Q735fsWTp.S215del
MICp.R216*WTp.E285K
ORSp.D625fsWTp.C176F
POEp.F667fsWTp.L194R
SK-ES-1p.Q735*WTC176F
SK-NM-Cp.M1_R546DelWTp.M1_T125Del
A673WTdel(1a,1b,2,3)p.A119fs
EW-1WTdel(1a,1b,2,3)p.R273C
EW-7WTdel(1a)bWT
EW-16WTdel(1a,1b,2,3)p.K120fs
STA-ET-1WTdel(1a,1b,2,3)WT
TC-71WTdel(1b,2,3)p.R213*
STA-ET-3WThetcWT
EW-18WTWTp.C176F
RD-ESWTWTp.R273C
STA-ET-8WTWTp.P152T
  • aSTAG2 and TP53 mutations are annotated with respect to reference sequences NM_001042749 and NM_000546. For CDKN2A, numbers indicate the corresponding homozygous deleted exons (del) at this locus (exon 1a is specific for CDKNA2INK4A, exon 1b is specific for CDKNA2ARF, and exons 2 and 3 are common to both).

  • bIndicates a G->A polymorphism identified in EW-7 and EW-22 cell lines (rs3731249).

  • cThe STA-ET-3 cell line has a C to T heterozygous mutation (het) at position chr9:21,971,120 (hg19), leading to nonsense (p.R80* for p16INK4A based on NM_000077) and missense (p.P94L for p14ARF based on NM_058195) mutations.