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Cellosaurus IBBISTi001-D (CVCL_A5FH)

[Text version]
Cell line name IBBISTi001-D
Synonyms 2042 clone 5; 2042 cl5
Accession CVCL_A5FH
Resource Identification Initiative To cite this cell line use: IBBISTi001-D (RRID:CVCL_A5FH)
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; 1100; BRCA1; Simple; p.Ala1206Profs*4 (c.3612delA); ClinVar=VCV000037533; Zygosity=Heterozygous (PubMed=33631522).
Disease BRCA1-associated hereditary breast and ovarian cancer syndrome (NCIt: C36100)
Hereditary breast cancer (ORDO: Orphanet_227535)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A5FE ! IBBISTi001-A
CVCL_A5FF ! IBBISTi001-B
CVCL_A5FG ! IBBISTi001-C
Sex of cell Female
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=33631522; DOI=10.1016/j.scr.2021.102242
Silva T.P., Pereira C.A., Oliveira A.R., Raposo A.C., 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 from a family carrying the BRCA1 mutation c.3612delA.
Stem Cell Res. 52:102242-102242(2021)

Cross-references
Cell line databases/resources hPSCreg; IBBISTi001-D
Encyclopedic resources Wikidata; Q107115404
Entry history
Entry creation20-May-2021
Last entry update05-Oct-2023
Version number6