Cellosaurus cell line ATTR3 (CVCL

Cross-references
Cell line name	ATTR3
Accession	CVCL_D2WJ
Resource Identification Initiative	To cite this cell line use: ATTR3 (RRID:CVCL_D2WJ)
Comments	From: Boston University School of Medicine; Boston; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12405; TTR; Simple; p.Leu78His (c.233T>A) (L78H); ClinVar=VCV000013420; Zygosity=Heterozygous (PubMed=30032658).
Disease	Hereditary transthyretin amyloid cardiomyopathy (NCIt: C165489) Hereditary ATTR amyloidosis (ORDO: Orphanet_271861)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	53Y
Category	Induced pluripotent stem cell
Web pages	https://stemcellbank.bu.edu/Catalog/Item/Details/659
Publications	PubMed=30032658; DOI=10.1080/13506129.2018.1489228; PMCID=PMC6319917 Giadone R.M., Rosarda J.D., Akepati P.R., Thomas A.C., Boldbaatar B., James M.F., Wilson A.A., Sanchorawala V., Connors L.H., Berk J.L., Wiseman R.L., Murphy G.J. A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics. Amyloid 25:148-155(2018)
Encyclopedic resources	Wikidata; Q127380243
Entry history
Entry creation	30-Jan-2024
Last entry update	19-Dec-2024
Version number	3