ID   NIHTVBi013-A
AC   CVCL_YM85
SY   AD-HIES5
DR   hPSCreg; NIHTVBi013-A
DR   SKIP; SKIP005575
DR   Wikidata; Q98127890
RX   PubMed=31707214;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11364; STAT3; Simple; p.Val463del (c.1384_1386GTG[1]) (c.1387_1389delGTG); ClinVar=VCV000018303; Zygosity=Heterozygous (PubMed=31707214).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=31707214
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 12,13
ST   D16S539: 11,13
ST   D18S51: 17
ST   D21S11: 27,31.2
ST   D3S1358: 15,17
ST   D5S818: 12
ST   D7S820: 10
ST   D8S1179: 16
ST   FGA: 21,24
ST   Penta D: 9,11
ST   Penta E: 11,17
ST   TH01: 7,9.3
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C3144; Hyperimmunoglobulin E syndrome
DI   ORDO; Orphanet_2314; Autosomal dominant hyper-IgE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31707214; DOI=10.1016/j.scr.2019.101586;
RA   Jin H., Yu Z., Navarengom K.B., Liu Y.-T., Dmitrieva N., Hsu A.P.,
RA   Schwartzbeck R., Cudrici C., Ferrante E.A., Yang D., Holland S.M.,
RA   Freeman A.F., Boehm M., Chen G.-B.;
RT   "Generation of human induced pluripotent stem cell lines
RT   (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant
RT   hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation.";
RL   Stem Cell Res. 41:101586-101586(2019).
//