ID   GM26197
AC   CVCL_JF27
DR   Coriell; GM26197
DR   Wikidata; Q54854088
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gln73Ter (c.217C>T); ClinVar=VCV000205480; Zygosity=Heterozygous (Coriell=GM26197).
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   Male
AG   3Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 12
//