ID   PEIi002-A
AC   CVCL_YC48
SY   AGS-A
DR   hPSCreg; PEIi002-A
DR   Wikidata; Q98128535
RX   PubMed=32062129;
CC   From: Paul Ehrlich Institute; Langen; Germany.
CC   Sequence variation: Mutation; HGNC; 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_YC49 ! PEIi002-B
OI   CVCL_YC50 ! PEIi002-C
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 7
//
RX   PubMed=32062129; DOI=10.1016/j.scr.2019.101697;
RA   Fuchs, Nina V.
RA   Schieck, Maximilian
RA   Neuenkirch, Michaela
RA   Tondera, Christiane
RA   Schmitz, Heike
RA   Wendeburg, Lena
RA   Steinemann, Doris
RA   Elpers, Christiane
RA   Rutsch, Frank
RA   Konig, Renate
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).
//