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Cellosaurus vNBS8-iPS-c1 (CVCL_9U58)

[Text version]
Cell line name vNBS8-iPS-c1
Accession CVCL_9U58
Resource Identification Initiative To cite this cell line use: vNBS8-iPS-c1 (RRID:CVCL_9U58)
Comments From: Max Planck Institute for Molecular Genetics; Berlin; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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=Heterozygous (PubMed=26987925).
Disease Nijmegen breakage syndrome (NCIt: C4692)
Nijmegen breakage syndrome (ORDO: Orphanet_647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_9U59 ! vNBS8-iPS-c2
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=26987925; DOI=10.1016/j.scr.2015.10.013
Barbara Mlody, James Adjaye;
Generation of iPSC lines from a Nijmegen breakage syndrome patient.
Stem Cell Res. 15:629-632(2015)

Cross-references
Encyclopedic resources Wikidata; Q54993297
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12