ID   GM06101
AC   CVCL_1N87
DR   CLO; CLO_0023624
DR   Coriell; GM06101
DR   Wikidata; Q54842165
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; p.Arg1743Gln (c.5528G>A); ClinVar=VCV000049960; Zygosity=Heterozygous (Coriell=GM06101).
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)
OI   CVCL_1N88 ! GM06102
SX   Female
AG   26Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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