ID   UMB1949
AC   CVCL_C471
SY   UMBSVtel
DR   ATCC; CRL-4004
DR   BioSample; SAMN03471715
DR   Wikidata; Q54991071
RX   PubMed=17592550;
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; p.Val1362Leufs*50 (c.4083_4087delAGTCG); ClinVar=VCV000049741; Zygosity=Unspecified (PubMed=17592550).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
ST   Source(s): ATCC=CRL-4004
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 12,13
ST   D16S539: 12
ST   D18S51: 16,17
ST   D19S433: 14
ST   D21S11: 28,30
ST   D2S1338: 17,19
ST   D3S1358: 15,18
ST   D5S818: 11
ST   D7S820: 9,10
ST   D8S1179: 13,14
ST   FGA: 23
ST   Penta D: 10,13
ST   Penta E: 5,7
ST   TH01: 6,8
ST   TPOX: 12
ST   vWA: 18
DI   NCIt; C3888; Kidney angiomyolipoma
DI   NCIt; C75331; Tuberous sclerosis 2
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 20
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RX   PubMed=17592550; DOI=10.2119/2006-00070.Lim; PMCID=PMC1892760;
RA   Lim S.D., Stallcup W.B., Lefkove B., Govindarajan B., Au K.S.,
RA   Northrup H., Lang D., Fisher D.E., Patel A., Amin M.B., Arbiser J.L.;
RT   "Expression of the neural stem cell markers NG2 and L1 in human
RT   angiomyolipoma: are angiomyolipomas neoplasms of stem cells?";
RL   Mol. Med. 13:160-165(2007).
//