ID   MHHi010-A
AC   CVCL_ZE34
SY   STAT1_CMC_1
DR   hPSCreg; MHHi010-A
DR   Wikidata; Q98127234
RX   PubMed=32000109;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11362; STAT1; Simple; p.Arg274Gln (c.821G>A); ClinVar=VCV000030085; Zygosity=Heterozygous (PubMed=32000109).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172099; STAT1-associated immunodeficiency
DI   ORDO; Orphanet_391487; Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32000109; DOI=10.1016/j.scr.2020.101713;
RA   Haake K., Wustefeld T., Merkert S., Luttge D., Gohring G., Auber B.,
RA   Baumann U., Lachmann N.;
RT   "Human STAT1 gain-of-function iPSC line from a patient suffering from
RT   chronic mucocutaneous candidiasis.";
RL   Stem Cell Res. 43:101713-101713(2020).
//