ID   UCH-ICF-TK-1
AC   CVCL_E5GP
SY   ICF-TK1; TK1
DR   GEO; GSM658970
DR   GEO; GSM659046
RX   PubMed=21654665;
CC   From: University of Connecticut Health Center; Farmington; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2979; DNMT3B; Simple; p.Ala603Thr (c.1807G>A); ClinVar=VCV000006740; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:2979; DNMT3B; Simple; p.Glu806_Arg807insSerThrPro (c.2397-11G>A) (IVS22AS,G>A,-11) (744ins3); ClinVar=VCV000006741; Zygosity=Heterozygous; Note=De novo mutation (from parent cell line).
CC   Omics: Variations; Array-based CGH.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C156430; Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DI   ORDO; Orphanet_2268; ICF syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E130 ! GM08747
SX   Female
AG   1Y5M
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=21654665; DOI=10.1038/nbt.1890;
RA   Martins-Taylor K., Nisler B.S., Taapken S.M., Compton T.M.,
RA   Crandall L.J., Montgomery K.D., Lalande M.E., Xu R.-H.;
RT   "Recurrent copy number variations in human induced pluripotent stem
RT   cells.";
RL   Nat. Biotechnol. 29:488-491(2011).
//