ID   GM21871
AC   CVCL_5R39
DR   Coriell; GM21871
DR   Wikidata; Q54852191
RX   PubMed=23665875;
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys103Glufs*2 (c.307_311delAAAGA) (I102fs*1); ClinVar=VCV000021243; Zygosity=Homozygous (Coriell=GM21871).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Discontinued: Coriell; GM21871; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C4681; Roberts-SC phocomelia syndrome
DI   ORDO; Orphanet_3103; Roberts syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7663 ! GM21872
SX   Female
AG   25FW
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
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).
//