Cellosaurus cell line CIAUi002-C (CVCL

Cellosaurus CIAUi002-C (CVCL_C9LV)

Cross-references
Cell line name	CIAUi002-C
Synonyms	UBC3 M1
Accession	CVCL_C9LV
Resource Identification Initiative	To cite this cell line use: CIAUi002-C (RRID:CVCL_C9LV)
Comments	From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 10593; SCN5A; Simple; c.392+3A>G; ClinVar=VCV000918002; Zygosity=Heterozygous (PubMed=37385135).
Disease	Progressive familial heart block, type Ia (NCIt: C126651) Familial progressive cardiac conduction defect (ORDO: Orphanet_871)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C9LT ! CIAUi002-A CVCL_C9LU ! CIAUi002-B
Sex of cell	Female
Age at sampling	30Y
Category	Induced pluripotent stem cell
Publications	PubMed=37385135; DOI=10.1016/j.scr.2023.103153 Li S., Fraser S.T., Ranpura G., Lim S., Singer E.S., Parker J.D.K., Crowe J., Bagnall R.D., Laksman Z.W., Semsarian C. Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392+3A>G splice-site variant. Stem Cell Res. 71:103153-103153(2023)
Cell line databases/resources	hPSCreg; CIAUi002-C
Biological sample resources	BioSamples; SAMEA112941291
Encyclopedic resources	Wikidata; Q123030933
Entry history
Entry creation	05-Oct-2023
Last entry update	30-Jan-2024
Version number	2