ID   GM06099
AC   CVCL_5L52
DR   CLO; CLO_0023622
DR   Coriell; GM06099
DR   Wikidata; Q54842163
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; c.2743-1G>A; ClinVar=VCV000049560; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM06099).
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_5L53 ! GM06100
SX   Female
AG   22Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 16
//