Cellosaurus

• Mutation; HGNC; 11998; TP53; Simple; p.His193Arg (c.578A>G); ClinVar=VCV000184979; Zygosity=Unspecified; Note=Somatic mutation acquired during proliferation (PubMed=28445466).
  

PubMed=20471072; DOI=10.1016/j.cell.2010.04.010
Lengner C.J., Gimelbrant A.A., Erwin J.A., Cheng A.W., Guenther M.G., Welstead G.G., Alagappan R., Frampton G.M., Xu P., Muffat J., Santagata S., Powers D., Barrett C.B., Young R.A., Lee J.T., Jaenisch R., Mitalipova M.
Derivation of pre-X inactivation human embryonic stem cells under physiological oxygen concentrations.
Cell 141:872-883(2010)

PubMed=24172903; DOI=10.1038/nature12745
Gafni O., Weinberger L., Mansour A.A., Manor Y.S., Chomsky E., Ben-Yosef D., Kalma Y., Viukov S., Maza I., Zviran A., Rais Y., Shipony Z., Mukamel Z., Krupalnik V., Zerbib M., Geula S., Caspi I., Schneir D., Shwartz T., Gilad S., Amann-Zalcenstein D., Benjamin S., Amit I., Tanay A., Massarwa R., Novershtern N., Hanna J.H.
Derivation of novel human ground state naive pluripotent stem cells.
Nature 504:282-286(2013)

PubMed=24936472; DOI=10.1016/j.stemcr.2014.03.014
Maetzel D., Sarkar S., Wang H., Abi-Mosleh L., Xu P., Cheng A.W., Gao Q., Mitalipova M., Jaenisch R.
Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick type C patient-specific iPS cells.
Stem Cell Reports 2:866-880(2014)

PubMed=25090446; DOI=10.1016/j.stem.2014.07.002
Theunissen T.W., Powell B.E., Wang H.-Y., Mitalipova M., Faddah D.A., Reddy J., Fan Z.-P., Maetzel D., Ganz K., Shi L.-Y., Lungjangwa T., Imsoonthornruksa S., Stelzer Y., Rangarajan S., D'Alessio A.C., Zhang J.-M., Gao Q., Dawlaty M.M., Young R.A., Gray N.S., Jaenisch R.
Systematic identification of culture conditions for induction and maintenance of naive human pluripotency.
Cell Stem Cell 15:471-487(2014)

PubMed=28445466; DOI=10.1038/nature22312
Merkle F.T., Ghosh S., Kamitaki N., Mitchell J., Avior Y., Mello C., Kashin S., Mekhoubad S., Ilic D., Charlton M., Saphier G., Handsaker R.E., Genovese G., Bar S., Benvenisty N., McCarroll S.A., Eggan K.C.
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.
Nature 545:229-233(2017)