ID   GM03933
AC   CVCL_5L48
DR   CLO; CLO_0016126
DR   Coriell; GM03933
DR   Wikidata; Q54838332
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; p.His522Thrfs*13 (c.1564delC); ClinVar=VCV000049640; Zygosity=Unspecified (Coriell=GM03933).
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_5L49 ! GM03958
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 13
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