ID   GM17538
AC   CVCL_4F43
DR   CLO; CLO_0013059
DR   Coriell; GM17538
DR   Wikidata; Q54848962
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Ser134Cys (c.401C>G) (p.Ser146Cys, c.437C>G); ClinVar=VCV000143562; Zygosity=Hemizygous (Coriell=GM17538).
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   Male
AG   7Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 11
//