ID   GM27227
AC   CVCL_VV51
DR   Coriell; GM27227
DR   Wikidata; Q93933094
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Trp308Ter (c.924G>A); ClinVar=VCV000013871; Zygosity=Unspecified; Note=De novo mutation (Coriell=GM27227).
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)
OI   CVCL_UT81 ! GM27190
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 9
//