ID   GM23675
AC   CVCL_5S97
DR   Coriell; GM23675
DR   Wikidata; Q54853218
RX   PubMed=23665875;
RX   PubMed=24508304;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Gene amplification; HGNC; HGNC:6990; MECP2; Duplication; Zygosity=Hemizygous (PubMed=24508304).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126747; Lubs X-linked mental retardation syndrome
DI   ORDO; Orphanet_1762; Proximal Xq28 duplication syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
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RX   PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
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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).
//