Cellosaurus cell line IBBISTi001-C (CVCL

Cross-references
Cell line name	IBBISTi001-C
Synonyms	2042 clone 4; 2042 cl4
Accession	CVCL_A5FG
Resource Identification Initiative	To cite this cell line use: IBBISTi001-C (RRID:CVCL_A5FG)
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; 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_A5FH ! IBBISTi001-D
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)
Cell line databases/resources	hPSCreg; IBBISTi001-C
Encyclopedic resources	Wikidata; Q107115403
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	7