Cellosaurus cell line SCVIi074-A (CVCL

Cross-references
Cell line name	SCVIi074-A
Synonyms	SCVIi599C1
Accession	CVCL_C6SL
Resource Identification Initiative	To cite this cell line use: SCVIi074-A (RRID:CVCL_C6SL)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:939; BAG3; Simple; p.Ser185Leu (c.554C>T); ClinVar=VCV000180282; Zygosity=Heterozygous (PubMed=36642055).
Disease	Dilated cardiomyopathy-1HH (NCIt: C192082) Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	71Y
Category	Induced pluripotent stem cell
Publications	PubMed=36642055; DOI=10.1016/j.scr.2023.103019; PMCID=PMC10042224 Peter-James H. Zushin, Yang Zhou, Audrey Li, Euan Angus Ashley, Matthew T. Wheeler, Joseph C. Wu; Generation of two human iPSC lines with exon 3 mutations in BCL2-associated athanogene 3 (BAG3) from dilated cardiomyopathy patients. Stem Cell Res. 67:103019-103019(2023)
Cell line databases/resources	hPSCreg; SCVIi074-A
Biological sample resources	BioSamples; SAMEA112228228
Encyclopedic resources	Wikidata; Q117704860
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3