Cellosaurus cell line GM20466 (CVCL

Cross-references
Cell line name	GM20466
Synonyms	AG04344; AG4344
Accession	CVCL_7660
Resource Identification Initiative	To cite this cell line use: GM20466 (RRID:CVCL_7660)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Gln202Ter (c.604C>T); ClinVar=VCV000001740; Zygosity=Heterozygous (PubMed=16380922). Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys253fs*12 (c.752delA); Zygosity=Heterozygous (PubMed=16380922).
Disease	Roberts-SC phocomelia syndrome (NCIt: C4681) Roberts syndrome (ORDO: Orphanet_3103)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_7661 ! GM20467
Sex of cell	Female
Age at sampling	34Y
Category	Transformed cell line
Publications	PubMed=16380922; DOI=10.1086/498695; PMCID=PMC1285169 Schule B., Oviedo A., Johnston K., Pai S., Francke U. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am. J. Hum. Genet. 77:1117-1128(2005)
Cell line collections (Providers)	Coriell; AG04344 - Discontinued Coriell; GM20466
Cell line databases/resources	CLO; CLO_0029512
Biological sample resources	BioSample; SAMN00805846
Encyclopedic resources	Wikidata; Q54851039
Entry history
Entry creation	04-Apr-2012
Last entry update	19-Dec-2024
Version number	18