ID   GM27411
AC   CVCL_YN43
DR   Coriell; GM27411
DR   Wikidata; Q93933226
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Glu154Glyfs*301 (c.460dupG); ClinVar=VCV000095268; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27411).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176903; Rett syndrome, congenital variant
DI   ORDO; Orphanet_3095; Atypical Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
//