ID   iPSC-CGD1.2
AC   CVCL_V182
DR   Wikidata; Q54898217
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.
ST   Source(s): PubMed=22311747
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 12,14
ST   D16S539: 9,12
ST   D18S51: 13,15
ST   D21S11: 30,31.2
ST   D3S1358: 14,17
ST   D5S818: 12,13
ST   D7S820: 10,11
ST   D8S1179: 12,16
ST   FGA: 18,19
ST   Penta D: 9,14
ST   Penta E: 12
ST   TH01: 6,9.3
ST   TPOX: 8,10
ST   vWA: 16,17
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_V181 ! iPSC-CGD1.1
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., 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).
//