ID   PEIi002-B
AC   CVCL_YC49
SY   AGS-2
DR   hPSCreg; PEIi002-B
DR   Wikidata; Q98128536
RX   PubMed=32062129;
CC   From: Paul Ehrlich Institute; Langen; Germany.
CC   Sequence variation: Mutation; HGNC; 15925; SAMHD1; Unexplicit; Ex14-15del; Zygosity=Homozygous (PubMed=32062129).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168564; Aicardi-Goutieres syndrome 5
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YC48 ! PEIi002-A
OI   CVCL_YC50 ! PEIi002-C
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32062129; DOI=10.1016/j.scr.2019.101697;
RA   Fuchs N.V., Schieck M., Neuenkirch M., Tondera C., Schmitz H.,
RA   Wendeburg L., Steinemann D., Elpers C., Rutsch F., Konig R.;
RT   "Generation of three induced pluripotent cell lines (iPSCs) from an
RT   Aicardi-Goutieres syndrome (AGS) patient harboring a deletion in the
RT   genomic locus of the sterile alpha motif and HD domain containing
RT   protein 1 (SAMHD1).";
RL   Stem Cell Res. 43:101697-101697(2020).
//