ID   GM04519
AC   CVCL_5L50
DR   CLO; CLO_0018846
DR   Coriell; GM04519
DR   Wikidata; Q54838557
RX   PubMed=23665875;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Unexplicit; Ex1-14del; Zygosity=Unspecified (Coriell=GM04519).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75331; Tuberous sclerosis 2
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_5L51 ! GM04520
SX   Female
AG   15Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
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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).
//