ID   GM21911
AC   CVCL_BT58
DR   Coriell; GM21911
DR   Wikidata; Q54852217
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Glu137Aspfs*1 (c.411delG) (p.Glu149Aspfs*1, c.447delG) (L138X); ClinVar=VCV000143565; Zygosity=Unspecified (Coriell=GM21911).
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   Children
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 10
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