ID   iPSC-CGD1.1
AC   CVCL_V181
DR   Wikidata; Q54898216
RX   PubMed=22311747;
CC   Sequence variation: Mutation; HGNC; HGNC:7660; NCF1; Simple; p.Tyr26Hisfs*26 (c.73_74GT[1]) (c.75_76delGT); ClinVar=VCV000002249; Zygosity=Homozygous (PubMed=22311747).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C154314; Autosomal recessive cytochrome b-positive chronic granulomatous disease type I
DI   ORDO; Orphanet_379; Chronic granulomatous disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V182 ! iPSC-CGD1.2
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 12
//
RX   PubMed=22311747; DOI=10.1002/stem.1053; PMCID=PMC3593166;
RA   Jiang Y., Cowley S.A., Siler U., Melguizo-Sanchis D., Tilgner K.,
RA   Browne C., Dewilton A., Przyborski S.A., Saretzki G., James W.S.,
RA   Seger R.A., Reichenbach J., Lako M., Armstrong L.;
RT   "Derivation and functional analysis of patient-specific induced
RT   pluripotent stem cells as an in vitro model of chronic granulomatous
RT   disease.";
RL   Stem Cells 30:599-611(2012).
//