ID   GM16497
AC   CVCL_4F39
DR   CLO; CLO_0017491
DR   Coriell; GM16497
DR   Wikidata; Q54848611
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg255Ter (c.763C>T) (p.Arg267Ter, c.799C>T); ClinVar=VCV000011829; Zygosity=Unspecified (Coriell=GM16497).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
//