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Cellosaurus UCH-ICF-TK-1 (CVCL_E5GP)

[Text version]
Cell line name UCH-ICF-TK-1
Synonyms ICF-TK1; TK1
Accession CVCL_E5GP
Resource Identification Initiative To cite this cell line use: UCH-ICF-TK-1 (RRID:CVCL_E5GP)
Comments From: University of Connecticut Health Center; Farmington; USA.
Population: Caucasian.
Omics: Variations; Array-based CGH.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2979; DNMT3B; Simple; p.Ala603Thr (c.1807G>A); ClinVar=VCV000006740; Zygosity=Heterozygous (from parent cell line).
  • 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).
Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (NCIt: C156430)
ICF syndrome (ORDO: Orphanet_2268)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E130 (GM08747)
Sex of cell Female
Age at sampling 1Y5M
Category Induced pluripotent stem cell
Publications

PubMed=21654665; DOI=10.1038/nbt.1890
Martins-Taylor K., Nisler B.S., Taapken S.M., Compton T.M., Crandall L.J., Montgomery K.D., Lalande M.E., Xu R.-H.
Recurrent copy number variations in human induced pluripotent stem cells.
Nat. Biotechnol. 29:488-491(2011)

Cross-references
Gene expression databases GEO; GSM658970
GEO; GSM659046
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1