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Cellosaurus IDIBGIi002-A (CVCL_B5TC)

[Text version]
Cell line name IDIBGIi002-A
Synonyms RB20234
Accession CVCL_B5TC
Resource Identification Initiative To cite this cell line use: IDIBGIi002-A (RRID:CVCL_B5TC)
Comments From: Institut d'Investigacio Biomedica de Girona Dr. Josep Trueta; Salt; Spain.
Population: Caucasian.
Derived from site: In situ; Back, skin; UBERON=UBERON_0001068.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10593; SCN5A; Simple; p.Val1525Met (c.4573G>A) (p.Val1524Met, c.4570G>A); ClinVar=VCV000067910; Zygosity=Heterozygous (PubMed=35772296).
Disease Brugada syndrome (NCIt: C142891)
Brugada syndrome (ORDO: Orphanet_130)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=35772296; DOI=10.1016/j.scr.2022.102847
Martinez-Moreno R., Carreras D., Aran B., Kuebler B., Sarquella-Brugada G., Brugada R., Perez G.J., Scornik F.S., Selga E.
Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A.
Stem Cell Res. 63:102847-102847(2022)

Cross-references
Cell line databases/resources hPSCreg; IDIBGIi002-A
Biological sample resources BioSamples; SAMEA12361512
Encyclopedic resources Wikidata; Q111733479
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number5