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

PubMed=7651392; DOI=10.1128/mcb.15.9.4745; PMCID=PMC230718
Rogan E.M., Bryan T.M., Hukku B., MacLean K., Chang A.C.-M., Moy E.L., Englezou A., Warneford S.G., Dalla-Pozza L., Reddel R.R.
Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts.
Mol. Cell. Biol. 15:4745-4753(1995)

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)

CLPUB00712
Henson J.D.
The role of alternative lengthening of telomeres in human cancer.
Thesis PhD (2006); University of Sydney; Sydney; Australia

PubMed=19468068; DOI=10.1083/jcb.200810084; PMCID=PMC2711592
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=19935656; DOI=10.1038/nbt.1587
Henson J.D., Cao Y., Huschtscha L.I., Chang A.C.-M., Au A.Y.M., Pickett H.A., Reddel R.R.
DNA C-circles are specific and quantifiable markers of alternative-lengthening-of-telomeres activity.
Nat. Biotechnol. 27:1181-1185(2009)

PubMed=22829774; DOI=10.1371/journal.pgen.1002772; PMCID=PMC3400581
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.
ALT Starr Cancer Consortium
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)