ID   GM20466
AC   CVCL_7660
SY   AG04344; AG4344
DR   CLO; CLO_0029512
DR   BioSample; SAMN00805846
DR   Coriell; AG04344
DR   Coriell; GM20466
DR   Wikidata; Q54851039
RX   PubMed=16380922;
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Gln202Ter (c.604C>T); ClinVar=VCV000001740; Zygosity=Heterozygous (PubMed=16380922).
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys253fs*12 (c.752delA); Zygosity=Heterozygous (PubMed=16380922).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: Coriell; AG04344; true.
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_7661 ! GM20467
SX   Female
AG   34Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 18
//
RX   PubMed=16380922; DOI=10.1086/498695; PMCID=PMC1285169;
RA   Schule B., Oviedo A., Johnston K., Pai S., Francke U.;
RT   "Inactivating mutations in ESCO2 cause SC phocomelia and Roberts
RT   syndrome: no phenotype-genotype correlation.";
RL   Am. J. Hum. Genet. 77:1117-1128(2005).
//