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Cellosaurus iPS.IV.3.1 (CVCL_W262)

[Text version]
Cell line name iPS.IV.3.1
Accession CVCL_W262
Resource Identification Initiative To cite this cell line use: iPS.IV.3.1 (RRID:CVCL_W262)
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-associated hereditary breast and ovarian cancer 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_W263 ! iPS.IV.3.2
CVCL_W264 ! iPS.IV.3.3
Sex of cell Female
Age at sampling 22Y
Category Induced pluripotent stem cell
Publications

PubMed=24319668; DOI=10.1016/j.stemcr.2013.08.004; PMCID=PMC3849250
Soyombo A.A., Wu Y.-P., Kolski L., Rios J.J., Rakheja D., Chen A., Kehler J., Hampel H., Coughran A., Ross T.S.
Analysis of induced pluripotent stem cells from a BRCA1 mutant family.
Stem Cell Reports 1:336-349(2013)

Cross-references
Encyclopedic resources Wikidata; Q54898181
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number12