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Cellosaurus IBBISTi003-C (CVCL_A5FM)

[Text version]
Cell line name IBBISTi003-C
Synonyms 2041 clone 8
Accession CVCL_A5FM
Resource Identification Initiative To cite this cell line use: IBBISTi003-C (RRID:CVCL_A5FM)
Comments From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1101; BRCA2; Unexplicit; c.156_157insAlu; ClinVar=VCV000126018; Zygosity=Heterozygous (PubMed=34087993).
Disease BRCA2-associated hereditary breast and ovarian cancer syndrome (NCIt: C36101)
Hereditary breast and ovarian cancer syndrome (ORDO: Orphanet_145)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A5FK ! IBBISTi003-A
CVCL_A5FL ! IBBISTi003-B
CVCL_A5FN ! IBBISTi003-D
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=34087993; DOI=10.1016/j.scr.2021.102364
Silva T.P., Pereira C.A., Raposo A.C., Oliveira A.R., Arez M., Cabral J.M.S., Milagre I., do Carmo-Fonseca M., da Rocha S.J.T.
Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation.
Stem Cell Res. 53:102364-102364(2021)

Cross-references
Cell line databases/resources hPSCreg; IBBISTi003-C
Encyclopedic resources Wikidata; Q107115410
Entry history
Entry creation20-May-2021
Last entry update05-Oct-2023
Version number6