ID   GM08714
AC   CVCL_E128
DR   CLO; CLO_0010422
DR   EFO; EFO_0005333
DR   BioSample; SAMN00798144
DR   Coriell; GM08714
DR   ENCODE; ENCBS182AAA
DR   ENCODE; ENCBS477AAA
DR   ENCODE; ENCBS478AAA
DR   Wikidata; Q54843253
RX   CelloPub=CLPUB00447;
WW   http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM08714_Farnham_protocol.pdf
CC   Part of: ENCODE project common cell types; tier 3.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2979; DNMT3B; Simple; p.Ala603Thr (c.1807G>A); ClinVar=VCV000006740; Zygosity=Heterozygous (Coriell=GM08714).
CC   Sequence variation: Mutation; HGNC; 2979; DNMT3B; Simple; c.2397-11G>A (IVS22AS,G>A,-11) (744ins3); ClinVar=VCV000006741; Zygosity=Heterozygous (Coriell=GM08714).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C156430; Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DI   ORDO; Orphanet_2268; ICF syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_E130 ! GM08747
SX   Female
AG   1Y5M
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 20
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//