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Cellosaurus HHUUKDi006-A (CVCL_UK17)

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Cell line name HHUUKDi006-A
Synonyms ISRM-NBS1
Accession CVCL_UK17
Resource Identification Initiative To cite this cell line use: HHUUKDi006-A (RRID:CVCL_UK17)
Comments From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; 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=Homozygous (PubMed=30616142).
Disease Nijmegen breakage syndrome (NCIt: C4692)
Nijmegen breakage syndrome (ORDO: Orphanet_647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=30616142; DOI=10.1016/j.scr.2018.101372
Soraia Martins, Martina Bohndorf, Nina Graffmann, Wasco Wruck, Krystyna Halina Chrzanowska, James Adjaye;
Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen breakage syndrome patient carrying the homozygous NBN c.657_661del5 mutation.
Stem Cell Res. 34:101372-101372(2019)

Cross-references
Cell line databases/resources hPSCreg; HHUUKDi006-A
Encyclopedic resources Wikidata; Q94207203
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number11