ID   GM25395
AC   CVCL_JF30
DR   Coriell; GM25395
DR   Wikidata; Q54853924
CC   Sequence variation: Mutation; HGNC; HGNC:13830; CNTNAP2; Simple; p.Asp1237Ilefs*17 (c.3709delG); ClinVar=VCV000005490; Zygosity=Homozygous (Coriell=GM25395).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133743; Cortical dysplasia-focal epilepsy syndrome
DI   ORDO; Orphanet_163681; Cortical dysplasia-focal epilepsy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 13
//