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Cellosaurus IVBF (CVCL_ZT88)

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Cell line name IVBF
Synonyms IVB-F
Accession CVCL_ZT88
Resource Identification Initiative To cite this cell line use: IVBF (RRID:CVCL_ZT88)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11998; TP53; Simple; p.Thr125Thr (c.375G>A); ClinVar=VCV000177825; Zygosity=Heterozygous; Note=Impairs TP53 splicing dramatically (PubMed=1467311).
Disease Li-Fraumeni syndrome (NCIt: C3476)
Li-Fraumeni syndrome (ORDO: Orphanet_524)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Publications

PubMed=1467311
Sally Gail Warneford, Leah J. Witton, Megan L. Townsend, Peter B. Rowe, Roger Robert Reddel, Luciano Dalla-Pozza, Geoff Symonds;
Germ-line splicing mutation of the p53 gene in a cancer-prone family.
Cell Growth Differ. 3:839-846(1992)

Cross-references
Encyclopedic resources Wikidata; Q98126789
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8