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 Bernardo Bonilauri, Hye Sook Shin, Min H. Htet, Christopher D. Yan, Ronald M. Witteles, Karim Sallam, Joseph C. Wu; 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