ID   GM23503
AC   CVCL_BV78
DR   Coriell; GM23503
DR   Wikidata; Q54853124
RX   PubMed=24508304;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Gly269Alafs*20 (c.806delG) (p.Gly281Alafs*20, c.842delG) (V288X); ClinVar=VCV000095202; 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   4Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 9
//
RX   PubMed=24508304; DOI=10.1016/j.jmoldx.2013.11.004;
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).
//