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Cellosaurus iPS.III.3.3 (CVCL_W252)

[Text version]
Cell line name iPS.III.3.3
Accession CVCL_W252
Resource Identification Initiative To cite this cell line use: iPS.III.3.3 (RRID:CVCL_W252)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Gln1756Profs*74 (c.5266dupC) (5382insC); ClinVar=VCV000017677; Zygosity=Heterozygous (PubMed=24319668).
Disease BRCA1 syndrome (NCIt: C36100)
Hereditary breast and ovarian cancer syndrome (ORDO: Orphanet_145)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_W250 ! iPS.III.3.1
CVCL_W251 ! iPS.III.3.2
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=24319668; DOI=10.1016/j.stemcr.2013.08.004; PMCID=PMC3849250
Abigail A. Soyombo, Yi-Pin Wu, Lauren Kolski, Jonathan J. Rios, Dinesh Rakheja, Alice Chen, James Kehler, Heather Hampel, Alanna Coughran, Theodora S. Ross;
Analysis of induced pluripotent stem cells from a BRCA1 mutant family.
Stem Cell Reports 1:336-349(2013)

Cross-references
Encyclopedic resources Wikidata; Q54898170
Entry history
Entry creation16-Apr-2014
Last entry update10-Apr-2025
Version number13