ID   IIICF/a2
AC   CVCL_4414
SY   III-CF culture A2
DR   Wikidata; Q54897434
RX   PubMed=22829774;
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Thr125Thr (c.375G>A); ClinVar=VCV000177825; Zygosity=Hemizygous; Note=Impairs TP53 splicing dramatically (from parent cell line).
CC   Caution: Was briefly displayed in Cell Bank Australia under catalog number CBA-0048 but was never intended to be distributed.
CC   Derived from site: In situ; Breast, stroma; UBERON=UBERON_0003584.
DI   NCIt; C3476; Li-Fraumeni syndrome
DI   ORDO; Orphanet_524; Li-Fraumeni syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZT89 ! IIICF
SX   Female
AG   30-40Y
CA   Spontaneously immortalized cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 14
//
RX   PubMed=22829774; DOI=10.1371/journal.pgen.1002772;
RA   Lovejoy C.A., Li W.-D., Reisenweber S., Thongthip S., Bruno J.,
RA   de Lange T., De S., Petrini J.H.J., Sung P.A., Jasin M., Rosenbluh J.,
RA   Zwang Y., Weir B.A., Hatton C., Ivanova E.V., MacConaill L.E., Hanna M.,
RA   Hahn W.C., Lue N.F., Reddel R.R., Jiao Y.-C., Kinzler K.W.,
RA   Vogelstein B., Papadopoulos N., Meeker A.K.;
RT   "Loss of ATRX, genome instability, and an altered DNA damage response
RT   are hallmarks of the alternative lengthening of telomeres pathway.";
RL   PLoS Genet. 8:E1002772-E1002772(2012).
//