Cellosaurus cell line SCVIi066-A (CVCL

Cross-references
Cell line name	SCVIi066-A
Synonyms	SCVI-2047; SCVI 2047; SCVI2047
Accession	CVCL_C1SD
Resource Identification Initiative	To cite this cell line use: SCVIi066-A (RRID:CVCL_C1SD)
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:12405; TTR; Simple; p.Val50Met (c.148G>A) (V30M); dbSNP=rs28933979; Zygosity=Heterozygous (PubMed=37788558).
Disease	Hereditary transthyretin amyloid cardiomyopathy (NCIt: C165489) ATTRV30M amyloidosis (ORDO: Orphanet_85447)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	65Y
Category	Induced pluripotent stem cell
Publications	PubMed=37788558; DOI=10.1016/j.scr.2023.103215; PMCID=PMC10821799 Bonilauri B., Shin H.S., Htet M.H., Yan C.D., Witteles R.M., Sallam K., Wu J.C. Generation of two induced pluripotent stem cell lines from patients with cardiac amyloidosis carrying heterozygous transthyretin (TTR) mutation. Stem Cell Res. 72:103215-103215(2023)
Cell line databases/resources	hPSCreg; SCVIi066-A
Biological sample resources	BioSamples; SAMEA110424193
Encyclopedic resources	Wikidata; Q114312980
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6