Cellosaurus cell line SCVIi027-A (CVCL

Cellosaurus SCVIi027-A (CVCL_B5FN)

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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; 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:

Amelogenin	X,Y
CSF1PO	11,13
D2S1338	19,23
D3S1358	16,17
D5S818	11,13
D7S820	9,11
D8S1179	12
D13S317	9,11
D16S539	11
D18S51	18,20
D19S433	12,13
D21S11	27,29.2
FGA	19,25
TH01	6
TPOX	10
vWA	16

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; SCVIi027-A

Encyclopedic resources

Wikidata; Q110433213

Entry history

Entry creation

16-Dec-2021

Last entry update

19-Dec-2024

Version number