ID   UNIBSi006-B
AC   CVCL_YB46
SY   AGS1_MM_C13
DR   hPSCreg; UNIBSi006-B
DR   Wikidata; Q98134277
RX   PubMed=31644995;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12269; TREX1; Simple; p.Ser88fs*22 (c.260insAG); Zygosity=Heterozygous (PubMed=31644995).
CC   Sequence variation: Mutation; HGNC; 12269; TREX1; Simple; p.Arg97His (c.290G>A); ClinVar=VCV000225498; Zygosity=Heterozygous (PubMed=31644995).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C165501; Aicardi-Goutieres syndrome 1
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YB45 ! UNIBSi006-A
OI   CVCL_YB47 ! UNIBSi006-C
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31644995; DOI=10.1016/j.scr.2019.101580;
RA   Ferraro R.M., Lanzi G., Masneri S., Barisani C., Piovani G., Savio G.,
RA   Cattalini M., Galli J., Cereda C., Muzi-Falconi M., Orcesi S.,
RA   Fazzi E., Giliani S.C.;
RT   "Generation of three iPSC lines from fibroblasts of a patient with
RT   Aicardi Goutieres syndrome mutated in TREX1.";
RL   Stem Cell Res. 41:101580-101580(2019).
//