Cellosaurus cell line BBANTWi006-A (CVCL

Cross-references
Cell line name	BBANTWi006-A
Synonyms	iPSC_BrS9_FB_C7; BrS9 C7
Accession	CVCL_B3NL
Resource Identification Initiative	To cite this cell line use: BBANTWi006-A (RRID:CVCL_B3NL)
Comments	From: Biobank Antwerpen; Antwerp; Belgium. Population: Caucasian; Belgian. Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10593; SCN5A; Simple; c.4714+95GGGT[3] (c.4813+3_4813+6dupGGGT); ClinVar=VCV000254157; Zygosity=Heterozygous (PubMed=35247843).
Disease	Brugada syndrome (NCIt: C142891) Brugada syndrome (ORDO: Orphanet_130)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	50Y
Category	Induced pluripotent stem cell
Publications	PubMed=35247843; DOI=10.1016/j.scr.2022.102719; PMCID=PMC8924004 Eline Simons, Aleksandra Nijak-Paeske, Bart Leo Loeys, Maaike Alaerts; Generation of two induced pluripotent stem cell (iPSC) lines (BBANTWi006-A, BBANTWi007-A) from Brugada syndrome patients carrying an SCN5A mutation. Stem Cell Res. 60:102719-102719(2022)
Cell line databases/resources	hPSCreg; BBANTWi006-A
Biological sample resources	BioSamples; SAMEA9372404
Encyclopedic resources	Wikidata; Q110432589
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	6