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Cellosaurus SCVIi026-A (CVCL_B5FM)

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Cell line name SCVIi026-A
Accession CVCL_B5FM
Resource Identification Initiative To cite this cell line use: SCVIi026-A (RRID:CVCL_B5FM)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: East Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Glu1784Lys (c.5350G>A) (p.Glu1783Lys, c.5347G>A); ClinVar=VCV000009377; Zygosity=Heterozygous (PubMed=34856468).
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 52Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34856468

Markers:
AmelogeninX
CSF1PO10,12
D2S133818,25
D3S135816,17
D5S81811,13
D7S82011,12
D8S117910,11
D13S3179,12
D16S5399
D18S5114,17
D19S43312,13
D21S1128.2,29.2
FGA19,21
TH018
TPOX7,10
vWA14,17

Run an STR similarity search on this cell line
Publications

PubMed=34856468; DOI=10.1016/j.scr.2021.102605
Nadjet Belbachir, Celine Lai, June-Wha Rhee, Yan Zhuge, Marco V. Perez, Karim Sallam, Joseph C. Wu;
Generation of two induced pluripotent stem cell lines from Brugada syndrome affected patients carrying SCN5A mutations.
Stem Cell Res. 57:102605-102605(2021)

Cross-references
Cell line databases/resources hPSCreg; SCVIi026-A
Encyclopedic resources Wikidata; Q110433212
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5