ID   GM27248
AC   CVCL_UT85
DR   Coriell; GM27248
DR   Wikidata; Q93933118
CC   Population: Caucasian; French and Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gln86Profs*35 (c.256dupC); ClinVar=VCV000189613; Zygosity=Heterozygous (Coriell=GM27248).
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_UT84 ! GM27246
SX   Female
AG   4Y
CA   Transformed cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 12
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