ID   GM17583
AC   CVCL_4F47
DR   CLO; CLO_0016983
DR   Coriell; GM17583
DR   Wikidata; Q54848978
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Leu100Val (c.298C>G) (p.Leu112Val, c.334C>G); ClinVar=VCV000011835; Zygosity=Heterozygous (Coriell=GM17583).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129718; 47,XXX syndrome
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_3375; Trisomy X
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
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