ID   GM22783
AC   CVCL_BV05
DR   Coriell; GM22783
DR   Wikidata; Q54852803
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg133Cys (c.397C>T) (p.Arg145Cys, c.433C>T); ClinVar=VCV000011809; Zygosity=Heterozygous (Coriell=GM22783).
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   11Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 10
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