ID   BFVSBi004-A
AC   CVCL_E4FL
SY   VS-19
DR   BioSamples; SAMEA115544329
DR   hPSCreg; BFVSBi004-A
RX   PubMed=38944978;
CC   From: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine; Stanford; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Asn76Asp (c.226A>G); ClinVar=VCV000519601; Zygosity=Heterozygous (PubMed=38944978).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125699; Ehlers-Danlos syndrome, type IV
DI   ORDO; Orphanet_286; Vascular Ehlers-Danlos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38944978; DOI=10.1016/j.scr.2024.103485; PMCID=PMC11315230;
RA   Manhas A., Tripathi D., Noishiki C.A., Wu D., Liu L., Sallam K.,
RA   Lee J.T., Fukaya E., Sayed N.;
RT   "Generation of two iPSC lines from vascular Ehlers-Danlos syndrome
RT   (vEDS) patients carrying a missense mutation in COL3A1 gene.";
RL   Stem Cell Res. 79:103485-103485(2024).
//