• 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=9175740; DOI=10.1093/hmg/6.6.921
Bryan T.M., Marusic L., Bacchetti S., Namba M., Reddel R.R.
The telomere lengthening mechanism in telomerase-negative immortal human cells does not involve the telomerase RNA subunit.
Hum. Mol. Genet. 6:921-926(1997)

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)