ID   GM27373
AC   CVCL_A1UT
DR   Coriell; GM27373
DR   Wikidata; Q105507157
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Asn232Ser (c.695A>G); ClinVar=VCV001698021; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27373).
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_A9QY ! GM27616
SX   Male
AG   23Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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