ID   GM23659
AC   CVCL_BW01
DR   Coriell; GM23659
DR   Wikidata; Q54853206
RX   PubMed=24508304;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg133Cys (c.397C>T) (p.Arg145Cys, c.433C>T); ClinVar=VCV000011809; Zygosity=Heterozygous (PubMed=24508304).
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   3Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=24508304; DOI=10.1016/j.jmoldx.2013.11.004; PMCID=PMC3937532;
RA   Kalman L.V., Tarleton J.C., Percy A.K., Aradhya S., Bale S.,
RA   Barker S.D., Bayrak-Toydemir P., Bridges C., Buller-Burckle A.M.,
RA   Das S., Iyer R.K., Vo T.D., Zvereff V.V., Toji L.H.;
RT   "Development of a genomic DNA reference material panel for Rett
RT   syndrome (MECP2-related disorders) genetic testing.";
RL   J. Mol. Diagn. 16:273-279(2014).
//