ID   GM25455
AC   CVCL_BA16
DR   Coriell; GM25455
DR   Wikidata; Q54853979
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; c.62+1delGT; Zygosity=Unspecified; Note=De novo mutation (Coriell=GM25455).
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)
OI   CVCL_BA17 ! GM25456
SX   Female
AG   18Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
//