ID   GM11301
AC   CVCL_4F19
DR   CLO; CLO_0026024
DR   Coriell; GM11301
DR   Wikidata; Q54844985
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Val247Terfs (c.739delG) (p.Met246_Val247insTer) (p.Met258_Val259insTer, c.775delG); ClinVar=VCV000143674; Zygosity=Unspecified (Coriell=GM11301).
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   Age unspecified
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
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