Cellosaurus logo
expasy logo

Cellosaurus 94P0496 (CVCL_B7IJ)

[Text version]
Cell line name 94P0496
Accession CVCL_B7IJ
Resource Identification Initiative To cite this cell line use: 94P0496 (RRID:CVCL_B7IJ)
Comments Population: Caucasian; Polish.
Karyotypic information: Mosaic; 46,XY; 45,XY,der(6)(6pter->6q11.1::13q11->13q21.33::20q11.22->20qter),-13 (PubMed=29445421).
Omics: Genomics; Whole genome sequencing.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=29445421).
Disease Nijmegen breakage syndrome (NCIt: C4692)
Nijmegen breakage syndrome (ORDO: Orphanet_647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Finite cell line
Publications

PubMed=29445421; DOI=10.1186/s13039-018-0364-6; PMCID=PMC5803995
Raneem Habib, Heidemarie Neitzel, Aurelie Ernst, John Kwong-Leong Wong, Bozenna Goryluk-Kozakiewicz, Antje Gerlach, Ilja Demuth, Karl Sperling, Krystyna Halina Chrzanowska;
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
Mol. Cytogenet. 11:17.1-17.9(2018)

Cross-references
Encyclopedic resources Wikidata; Q112927025
Entry history
Entry creation23-Jun-2022
Last entry update10-Apr-2025
Version number6