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

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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
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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; PMCID=PMC4050353
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; PMCID=PMC4184977
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; PMCID=PMC5427175
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)

PubMed=38405931; DOI=10.1101/2024.02.12.579917; PMCID=PMC10888955
Busquets Figueras O., Li H.-Q., Syed K.M., Alvarez Jerez P., Dunnack J., Lo Bu R., Verma Y., Pangilinan G.R., Martin A., Straub J., Du Y.-X., Simon V.M., Poser S., Bush Z., Diaz J., Sahagun A., Gao J.-P., Hernandez D.G., Levine K.S., Booth E.O., Bateup H.S., Rio D.C., Hockemeyer D., Blauwendraat C., Soldner F.F.
iSCORE-PD: an isogenic stem cell collection to research Parkinson disease.
bioRxiv 2024:02.12.579917-02.12.579917(2024)