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Cellosaurus SCVIi027-A (CVCL_B5FN)

[Text version]
Cell line name SCVIi027-A
Accession CVCL_B5FN
Resource Identification Initiative To cite this cell line use: SCVIi027-A (RRID:CVCL_B5FN)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Latino or Hispanic.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10593; SCN5A; Simple; p.Pro701Leu (c.2102C>T); ClinVar=VCV000067713; 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 Male
Age at sampling 36Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34856468

Markers:
AmelogeninX,Y
CSF1PO11,13
D2S133819,23
D3S135816,17
D5S81811,13
D7S8209,11
D8S117912
D13S3179,11
D16S53911
D18S5118,20
D19S43312,13
D21S1127,29.2
FGA19,25
TH016
TPOX10
vWA16

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Publications

PubMed=34856468; DOI=10.1016/j.scr.2021.102605
Belbachir N., Lai C., Rhee J.-W., Zhuge Y., Perez M.V., Sallam K., Wu J.C.
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; SCVIi027-A
Encyclopedic resources Wikidata; Q110433213
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4