Cellosaurus cell line IBBISTi001-A (CVCL

Cross-references
Cell line name	IBBISTi001-A
Synonyms	2042 clone 9; 2042 cl9
Accession	CVCL_A5FE
Resource Identification Initiative	To cite this cell line use: IBBISTi001-A (RRID:CVCL_A5FE)
Comments	From: Instituto de Medicina Molecular Joao Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa; Lisboa; 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 syndrome (NCIt: C36100) Hereditary breast cancer (ORDO: Orphanet_227535)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A5FF ! IBBISTi001-B CVCL_A5FG ! IBBISTi001-C 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 Teresa P. Silva, Carolina A. Pereira, Ana Rafaela Oliveira, Ana Claudia Raposo, Maria Arez, Joaquim Manuel Sampaio Cabral, Ines Milagre, Maria do Carmo-Fonseca, Simao Jose Teixeira da Rocha; 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-A
Encyclopedic resources	Wikidata; Q107115401
Entry history
Entry creation	20-May-2021
Last entry update	14-Aug-2025
Version number	9