ID   GM27315
AC   CVCL_A1UJ
DR   Coriell; GM27315
DR   Wikidata; Q105507125
CC   Population: Southeast Asian; Thai and Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Phe215Ser (c.644T>C); Zygosity=Heterozygous (Coriell=GM27315).
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   Female
AG   1Y9M
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//