ID   GM06146
AC   CVCL_5L56
DR   CLO; CLO_0023559
DR   Coriell; GM06146
DR   Wikidata; Q54842195
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12362; TSC1; Simple; p.Trp750Ter (c.2249G>A); ClinVar=VCV000048922; Zygosity=Heterozygous (Coriell=GM06146).
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)
OI   CVCL_5L58 ! GM06149
SX   Male
AG   17Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
//