ID   GM27852
AC   CVCL_ZH95
DR   Coriell; GM27852
DR   Wikidata; Q98126629
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly169Alafs*23 (c.506delG); ClinVar=VCV000471470; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27852).
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_YN66 ! GM27851
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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