ID   HUES 71
AC   CVCL_W717
SY   HUES71
DR   NIHhESC; NIHhESC-14-0281
DR   Wikidata; Q54896814
RX   PubMed=28445466;
CC   From: Harvard University; Boston; USA.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-14-0281.
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg248Trp (c.742C>T); ClinVar=VCV000012347; Zygosity=Unspecified; Note=Somatic mutation acquired during proliferation (PubMed=28445466).
CC   Omics: Deep exome analysis.
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
//
RX   PubMed=28445466; DOI=10.1038/nature22312; PMCID=PMC5427175;
RA   Merkle F.T., Ghosh S., Kamitaki N., Mitchell J., Avior Y., Mello C.,
RA   Kashin S., Mekhoubad S., Ilic D., Charlton M., Saphier G.,
RA   Handsaker R.E., Genovese G., Bar S., Benvenisty N., McCarroll S.A.,
RA   Eggan K.C.;
RT   "Human pluripotent stem cells recurrently acquire and expand dominant
RT   negative p53 mutations.";
RL   Nature 545:229-233(2017).
//