ID   GM27335
AC   CVCL_VV63
DR   Coriell; GM27335
DR   Wikidata; Q93933165
CC   Population: Caucasian; French.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Ser326Glufs*129 (c.974_975insA); Zygosity=Heterozygous (Coriell=GM27335).
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_YE51 ! GM27462
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 10
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