ID   GM09379
AC   CVCL_5L93
DR   CLO; CLO_0011843
DR   Coriell; GM09379
DR   Wikidata; Q54843710
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; 12363; TSC2; Simple; p.Ser1232Thrfs*92 (c.3693_3696delGTCT) (Leu1231fs*1323) (c.3693delGTCT); ClinVar=VCV000050013; Zygosity=Unspecified (Coriell=GM09379).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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)
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 30-01-24; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//