ID   BFVSBi001-A
AC   CVCL_C9M7
SY   VS-1
DR   BioSamples; SAMEA112856582
DR   hPSCreg; BFVSBi001-A
DR   Wikidata; Q123030785
RX   PubMed=38199067;
CC   From: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine; Stanford; USA.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; 8021; NT5E; Simple; p.Thr376Ala (c.1126A>G); ClinVar=VCV001175159; Zygosity=Homozygous (PubMed=38199067).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201591; Arterial calcification due to deficiency of CD73
DI   ORDO; Orphanet_289601; Hereditary arterial and articular multiple calcification syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38199067; DOI=10.1016/j.scr.2023.103285;
RA   Tripathi D., Manhas A., Noishiki C.A., Wu D., Adkar S., Sallam K.,
RA   Fukaya E., Leeper N.J., Sayed N.;
RT   "Generation of induced pluripotent stem cell line from a patient
RT   suffering from arterial calcification due to deficiency of CD73
RT   (ACDC).";
RL   Stem Cell Res. 75:103285-103285(2024).
//