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Cellosaurus SCVIi066-A (CVCL_C1SD)

[Text version]
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; 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
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)

Cross-references
Cell line databases/resources hPSCreg; SCVIi066-A
Biological sample resources BioSamples; SAMEA110424193
Encyclopedic resources Wikidata; Q114312980
Entry history
Entry creation22-Sep-2022
Last entry update30-Jan-2024
Version number5