ID   GM23711
AC   CVCL_5T12
DR   Coriell; GM23711
DR   Wikidata; Q54853256
RX   PubMed=23665875;
CC   Sequence variation: Gene deletion; HGNC; HGNC:20444; MBD5; Zygosity=Heterozygous (Coriell=GM23711).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Variations; CNV analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C141424; Mental retardation, autosomal dominant 1
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_AZ37 ! GM24585
SX   Female
AG   1Y6M
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 14
//
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).
//