ID   CHOPi011-A
AC   CVCL_C1NZ
SY   LD_1669.0
DR   BioSamples; SAMEA110587400
DR   hPSCreg; CHOPi011-A
DR   Wikidata; Q114310965
RX   PubMed=38181636;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 225; ADAR; Simple; p.Gly1007Arg (c.3019G>A); ClinVar=VCV000039458; Zygosity=Heterozygous (PubMed=38181636).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 02-05-24; Version: 4
//
RX   PubMed=38181636; DOI=10.1016/j.scr.2023.103299;
RA   Garcia L., Dominguez Gonzalez C., Gagne A.L., Maguire J.A., French D.L.,
RA   Takanohashi A., Almad A.A., Vanderver A., Sase S.;
RT   "Generation of three induced pluripotent stem cell lines from
RT   individuals with Aicardi-Goutieres syndrome caused by a c.3019G>A
RT   (p.G1007R) autosomal dominant pathogenic variant in ADAR1.";
RL   Stem Cell Res. 74:103299-103299(2024).
//