ID   GM27991
AC   CVCL_C7LN
DR   Coriell; GM27991
DR   Wikidata; Q117704366
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9440; THAP12; Simple; p.Glu105Asnfs*2 (c.312delA); Zygosity=Heterozygous (Coriell=GM27991).
CC   Sequence variation: Mutation; HGNC; HGNC:9440; THAP12; Simple; p.Pro277Thr (c.829C>A); Zygosity=Heterozygous (Coriell=GM27991).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84816; Lennox-Gastaut syndrome
DI   ORDO; Orphanet_2382; Lennox-Gastaut syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C7LP ! GM27993
SX   Female
AG   3Y10M
CA   Transformed cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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