• Mutation; HGNC; 11998; TP53; Simple; p.Thr125Thr (c.375G>A); ClinVar=VCV000177825; Zygosity=Hemizygous; Note=Impairs TP53 splicing dramatically (from parent cell line).
  

PubMed=8108114
MacLean K., Rogan E.M., Whitaker N.J., Chang A.C.-M., Rowe P.B., Dalla-Pozza L., Symonds G., Reddel R.R.
In vitro transformation of Li-Fraumeni syndrome fibroblasts by SV40 large T antigen mutants.
Oncogene 9:719-725(1994)

PubMed=19468068; DOI=10.1083/jcb.200810084
Jiang W.-Q., Zhong Z.-H., Nguyen A., Henson J.D., Toouli C.D., Braithwaite A.W., Reddel R.R.
Induction of alternative lengthening of telomeres-associated PML bodies by p53/p21 requires HP1 proteins.
J. Cell Biol. 185:797-810(2009)

PubMed=22829774; DOI=10.1371/journal.pgen.1002772
Lovejoy C.A., Li W.-D., Reisenweber S., Thongthip S., Bruno J., de Lange T., De S., Petrini J.H.J., Sung P.A., Jasin M., Rosenbluh J., Zwang Y., Weir B.A., Hatton C., Ivanova E.V., MacConaill L.E., Hanna M., Hahn W.C., Lue N.F., Reddel R.R., Jiao Y.-C., Kinzler K.W., Vogelstein B., Papadopoulos N., Meeker A.K.
Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.
PLoS Genet. 8:E1002772-E1002772(2012)