Cellosaurus logo
expasy logo

Cellosaurus GM08747 (CVCL_E130)

[Text version]
Cell line name GM08747
Accession CVCL_E130
Resource Identification Initiative To cite this cell line use: GM08747 (RRID:CVCL_E130)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2979; DNMT3B; Simple; p.Ala603Thr (c.1807G>A); ClinVar=VCV000006740; Zygosity=Heterozygous (Coriell=GM08747).
  • 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 (Coriell=GM08747).
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 Children:
CVCL_E5GP (UCH-ICF-TK-1)CVCL_E5GS (UCH-ICF-TK-10)CVCL_E5GQ (UCH-ICF-TK-4)
CVCL_E5GR (UCH-ICF-TK-7)
Originate from same individual CVCL_E128 ! GM08714
Sex of cell Female
Age at sampling 1Y5M
Category Finite cell line
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; GM08747
Cell line databases/resources CLO; CLO_0010505
Biological sample resources BioSample; SAMN00798156
Encyclopedic resources Wikidata; Q54843259
Entry history
Entry creation22-Oct-2012
Last entry update10-Apr-2025
Version number17