ID   GM07415
AC   CVCL_X462
SY   GM07415A
DR   CLO; CLO_0016917
DR   Coriell; GM07415
DR   Wikidata; Q54842728
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12362; TSC1; Simple; p.Ser332Tyrfs*9 (c.994_995insA); ClinVar=VCV000049136; Zygosity=Heterozygous (Coriell=GM07415).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75122; Tuberous sclerosis 1
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Transformed cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 17
//
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).
//