ID   GM16736
AC   CVCL_5Q77
DR   Coriell; GM16736
DR   Wikidata; Q54848720
RX   PubMed=23661601;
RX   PubMed=23665875;
CC   Sequence variation: Gene fusion; HGNC; HGNC:1787; CDKN2A + HGNC; HGNC:45045; FAM230A; Name(s)=CDKN2A-FAM230A (PubMed=23661601).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Variations; CNV analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C27644; Deafness
DI   NCIt; C3224; Melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_5Q78 ! GM16792
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 13
//
RX   PubMed=23661601; DOI=10.1002/humu.22354; PMCID=PMC3746749;
RA   Tan X.-H., Anzick S.L., Khan S.G., Ueda T., Stone G., DiGiovanna J.J.,
RA   Tamura D., Wattendorf D., Busch D.B., Brewer C.C., Zalewski C.,
RA   Butman J.A., Griffith A.J., Meltzer P.S., Kraemer K.H.;
RT   "Chimeric negative regulation of p14ARF and TBX1 by a t(9;22)
RT   translocation associated with melanoma, deafness, and DNA repair
RT   deficiency.";
RL   Hum. Mutat. 34:1250-1259(2013).
//
RX   PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//