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Cellosaurus CBRCULi016-A-1 (CVCL_D1FZ)

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Cell line name CBRCULi016-A-1
Synonyms SCN5A p.R219H-14C-ISO; SCN5A p.R219H clone 14C isogenic
Accession CVCL_D1FZ
Resource Identification Initiative To cite this cell line use: CBRCULi016-A-1 (RRID:CVCL_D1FZ)
Comments From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10593; SCN5A; Simple_corrected; p.Arg219His (c.656G>A); ClinVar=VCV000242206; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38232626).
Disease Brugada syndrome (NCIt: C142891)
Brugada syndrome (ORDO: Orphanet_130)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D1FY (CBRCULi016-A)
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=38232626; DOI=10.1016/j.scr.2024.103308
Mohammed Djemai, Dominic Jauvin, Hugo Poulin, Charles-Albert Chapotte-Baldacci, Mohamed Chahine;
Generation of a patient-specific iPSC cell line with cardiac arrhythmias and dilated cardiomyopathy (CBRCULi016-A), an isogenic control (CBRCULi016-A-1), and a paternal control (CBRCULi017-A).
Stem Cell Res. 75:103308-103308(2024)

Cross-references
Cell line databases/resources hPSCreg; CBRCULi016-A-1
Encyclopedic resources Wikidata; Q127380403
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number4