ID   GM16547
AC   CVCL_4F41
DR   CLO; CLO_0017558
DR   Coriell; GM16547
DR   Wikidata; Q54848633
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gln244Ter (c.730C>T) (p.Gln256Ter, c.766C>T); ClinVar=VCV000095200; Zygosity=Heterozygous (Coriell=GM16547).
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_4F42 ! GM16548
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
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