ID   NIHTVBi024-A
AC   CVCL_C1QD
SY   182-5
DR   BioSamples; SAMEA110414316
DR   hPSCreg; NIHTVBi024-A
DR   Wikidata; Q114312542
RX   PubMed=36399927;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:27962; STING1; Simple; p.Asn154Ser (c.461A>G); ClinVar=VCV000143861; Zygosity=Heterozygous (PubMed=36399927).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177547; STING-associated vasculopathy, infantile-onset
DI   ORDO; Orphanet_425120; STING-associated vasculopathy with onset in infancy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=36399927; DOI=10.1016/j.scr.2022.102974; PMCID=PMC9799028;
RA   Mehta, Atul
RA   Yu, Quan
RA   Liu, Yang-Tengyu
RA   Yang, Dan
RA   Zou, Ji-Zhong
RA   Beers, Jeanette K.
RA   de Jesus Rasheed, Adriana Almeida
RA   Rastegar, Andrew T.
RA   Goldbach-Mansky, Raphaela Theresia
RA   Boehm, Manfred
RA   Chen, Gui-Bin
RT   "Human induced pluripotent stem cells generated from STING-associated
RT   vasculopathy with onset in infancy (SAVI) patients with a
RT   heterozygous mutation in the STING gene.";
RL   Stem Cell Res. 65:102974-102974(2022).
//