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Cellosaurus IDIBGIi004-A (CVCL_B5TE)

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Cell line name IDIBGIi004-A
Synonyms RB20236; RB20236-C21; Rb20236-C21
Accession CVCL_B5TE
Resource Identification Initiative To cite this cell line use: IDIBGIi004-A (RRID:CVCL_B5TE)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Institut d'Investigacio Biomedica de Girona Dr. Josep Trueta; Salt; Spain.
Population: Caucasian.
Derived from site: In situ; Back, skin, dermis; UBERON=UBERON_0001068+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 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 45Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO10,11
D5S81811
D7S8209,11
D13S31712,13
D16S53912,13
D21S1130,32.2
TH019.3
TPOX8,9
vWA16,18

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/0/Anexo_dep%C3%B3sito_Rb20236-C21.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Lineas_Rb20236-C21.pdf
Publications

PubMed=35772296; DOI=10.1016/j.scr.2022.102847
Rebecca Martinez-Moreno, David Carreras, Begona Aran, Bernd Kuebler, Georgia Sarquella-Brugada, Ramon Brugada, Guillermo Javier Perez, Fabiana S. Scornik, Elisabet Selga;
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; IDIBGIi004-A
Biological sample resources BioSamples; SAMEA12362304
Encyclopedic resources Wikidata; Q111733481
Entry history
Entry creation17-Mar-2022
Last entry update10-Apr-2025
Version number7