ID   UNIBSi009-B
AC   CVCL_YB55
SY   AGS7-GS-C6.4
DR   hPSCreg; UNIBSi009-B
DR   Wikidata; Q98134296
RX   PubMed=31698194;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18873; IFIH1; Simple; p.Arg824Lys (c.2471G>A); ClinVar=VCV000812536; Zygosity=Heterozygous (PubMed=31698194).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168585; Aicardi-Goutieres syndrome 7
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YB54 ! UNIBSi009-A
OI   CVCL_YB56 ! UNIBSi009-C
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31698194; DOI=10.1016/j.scr.2019.101623;
RA   Masneri S., Lanzi G., Ferraro R.M., 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 isogenic induced pluripotent stem cell lines
RT   (iPSCs) from fibroblasts of a patient with Aicardi Goutieres syndrome
RT   carrying a c.2471G>A dominant mutation in IFIH1 gene.";
RL   Stem Cell Res. 41:101623-101623(2019).
//