ID   GM22713
AC   CVCL_BU87
DR   Coriell; GM22713
DR   Wikidata; Q54852749
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg168Ter (c.502C>T) (p.Arg180Ter, c.538C>T); ClinVar=VCV000011828; Zygosity=Heterozygous (Coriell=GM22713).
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   6Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 10
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