ID   GM09348
AC   CVCL_5L80
DR   CLO; CLO_0011966
DR   Coriell; GM09348
DR   Wikidata; Q54843695
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; p.Gln1503Pro (c.4508A>C); ClinVar=VCV000012401; Zygosity=Unspecified (Coriell=GM09348).
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   13Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
//