Cellosaurus logo
expasy logo

Cellosaurus BBANTWi006-A (CVCL_B3NL)

[Text version]
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; 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
Simons E., Nijak-Paeske A., Loeys B.L., Alaerts M.
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)

Cross-references
Cell line databases/resources hPSCreg; BBANTWi006-A
Biological sample resources BioSamples; SAMEA9372404
Encyclopedic resources Wikidata; Q110432589
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number5