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Cellosaurus BFVSBi001-A (CVCL_C9M7)

[Text version]
Cell line name BFVSBi001-A
Synonyms VS-1
Accession CVCL_C9M7
Resource Identification Initiative To cite this cell line use: BFVSBi001-A (RRID:CVCL_C9M7)
Comments From: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine; Stanford; USA.
Population: Hispanic.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8021; NT5E; Simple; p.Thr376Ala (c.1126A>G); ClinVar=VCV001175159; Zygosity=Homozygous (PubMed=38199067).
Disease Arterial calcification due to deficiency of CD73 (NCIt: C201591)
Hereditary arterial and articular multiple calcification syndrome (ORDO: Orphanet_289601)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 48Y
Category Induced pluripotent stem cell
Publications

PubMed=38199067; DOI=10.1016/j.scr.2023.103285; PMCID=PMC11164231
Tripathi D., Manhas A., Noishiki C.A., Wu D., Adkar S., Sallam K., Fukaya E., Leeper N.J., Sayed N.
Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC).
Stem Cell Res. 75:103285-103285(2024)

Cross-references
Cell line databases/resources hPSCreg; BFVSBi001-A
Biological sample resources BioSamples; SAMEA112856582
Encyclopedic resources Wikidata; Q123030785
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3