ID   GM16792
AC   CVCL_5Q78
SY   DD129BE
DR   Coriell; GM16792
DR   Wikidata; Q54848745
RX   PubMed=23661601;
CC   Sequence variation: Gene fusion; HGNC; HGNC:1787; CDKN2A + HGNC; HGNC:45045; FAM230A; Name(s)=CDKN2A-FAM230A (PubMed=23661601).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C27644; Deafness
DI   NCIt; C3224; Melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_5Q77 ! GM16736
SX   Male
AG   12Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
//
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).
//