Cellosaurus logo
expasy logo

Cellosaurus LUMCi004-A-5 (CVCL_E4H6)

[Text version]
Cell line name LUMCi004-A-5
Synonyms LU99_SCN5A-R282H_cis
Accession CVCL_E4H6
Resource Identification Initiative To cite this cell line use: LUMCi004-A-5 (RRID:CVCL_E4H6)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10593; SCN5A; Simple_edited; p.Arg282His (c.845G>A); ClinVar=VCV000068048; Zygosity=Unspecified; Note=By CRISPR/Cas9 (hPSCreg=LUMCi004-A-5).
Disease Brugada syndrome (NCIt: C142891)
Brugada syndrome (ORDO: Orphanet_130)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_UK77 (LUMCi004-A)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; LUMCi004-A-5
Biological sample resources BioSamples; SAMEA116100393
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1