ID   UNIBSi007-B
AC   CVCL_YB49
SY   AGS2_MV_C4
DR   hPSCreg; UNIBSi007-B
DR   Wikidata; Q98134284
RX   PubMed=31678772;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 25671; RNASEH2B; Simple; p.Ala177Thr (c.529G>A); ClinVar=VCV000001262; Zygosity=Homozygous (PubMed=31678772).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C165673; Aicardi-Goutieres syndrome 2
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YB48 ! UNIBSi007-A
OI   CVCL_YB50 ! UNIBSi007-C
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 05-10-23; Version: 8
//
RX   PubMed=31678772; DOI=10.1016/j.scr.2019.101620;
RA   Ferraro R.M., Masneri S., Lanzi G., 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   "Establishment of three iPSC lines from fibroblasts of a patient with
RT   Aicardi Goutieres syndrome mutated in RNaseH2B.";
RL   Stem Cell Res. 41:101620-101620(2019).
//