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Cellosaurus GM08714 (CVCL_E128)

[Text version]
Cell line name GM08714
Accession CVCL_E128
Resource Identification Initiative To cite this cell line use: GM08714 (RRID:CVCL_E128)
Comments Part of: ENCODE project common cell types; tier 3.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2979; DNMT3B; Simple; p.Ala603Thr (c.1807G>A); ClinVar=VCV000006740; Zygosity=Heterozygous (Coriell=GM08714).
  • Mutation; HGNC; HGNC:2979; DNMT3B; Simple; c.2397-11G>A (IVS22AS,G>A,-11) (744ins3); ClinVar=VCV000006741; Zygosity=Heterozygous (Coriell=GM08714).
Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (NCIt: C156430)
ICF syndrome (ORDO: Orphanet_2268)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_E130 ! GM08747
Sex of cell Female
Age at sampling 1Y5M
Category Transformed cell line
Web pages http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM08714_Farnham_protocol.pdf
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM08714
Cell line databases/resources CLO; CLO_0010422
Biological sample resources BioSample; SAMN00798144
ENCODE; ENCBS182AAA
ENCODE; ENCBS477AAA
ENCODE; ENCBS478AAA
Encyclopedic resources Wikidata; Q54843253
Experimental variables resources EFO; EFO_0005333
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number21