Cellosaurus cell line GM16792 (CVCL

Cross-references
Cell line name	GM16792
Synonyms	DD129BE
Accession	CVCL_5Q78
Resource Identification Initiative	To cite this cell line use: GM16792 (RRID:CVCL_5Q78)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Gene fusion; HGNC; HGNC:1787; CDKN2A + HGNC; HGNC:45045; FAM230A; Name(s)=CDKN2A-FAM230A (PubMed=23661601).
Disease	Deafness (NCIt: C27644) Melanoma (NCIt: C3224)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_5Q77 ! GM16736
Sex of cell	Male
Age at sampling	12Y
Category	Finite cell line
Publications	PubMed=23661601; DOI=10.1002/humu.22354; PMCID=PMC3746749 Xiao-Hui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John Joseph DiGiovanna, Deborah Tamura, Daniel Wattendorf, David B. Busch, Carmen C. Brewer, Christopher Zalewski ...Show all 15 authors... , John Anthony Butman, Andrew J. Griffith, Paul S. Meltzer, Kenneth H. Kraemer; Show fewer authors Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency. Hum. Mutat. 34:1250-1259(2013)
Cell line collections (Providers)	Coriell; GM16792
Encyclopedic resources	Wikidata; Q54848745
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	11