Cellosaurus cell line SCVIi092-A (CVCL

Cross-references
Cell line name	SCVIi092-A
Synonyms	SCVI-2628; SCVI2628
Accession	CVCL_D0LC
Resource Identification Initiative	To cite this cell line use: SCVIi092-A (RRID:CVCL_D0LC)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 12405; TTR; Simple; p.Phe84Leu (c.250T>C); ClinVar=VCV000013453; Zygosity=Heterozygous (PubMed=38100909).
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	Female
Age at sampling	68Y
Category	Induced pluripotent stem cell
Publications	PubMed=38100909; DOI=10.1016/j.scr.2023.103265; PMCID=PMC10883469 Melesio J.A., Bonilauri B., Li A., Pang P.D., Liao R.-L., Witteles R.M., Wu J.C., Sallam K. Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation. Stem Cell Res. 74:103265-103265(2024)
Cell line databases/resources	hPSCreg; SCVIi092-A
Biological sample resources	BioSamples; SAMEA113567258
Encyclopedic resources	Wikidata; Q123033436
Entry history
Entry creation	05-Oct-2023
Last entry update	02-May-2024
Version number	3