ID   NIHTVBi014-A
AC   CVCL_YM89
SY   p342
DR   hPSCreg; NIHTVBi014-A
DR   Wikidata; Q98127892
RX   PubMed=32721894;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; 25118; OTULIN; Simple; p.Leu272Pro (c.815T>C); ClinVar=VCV000254124; Zygosity=Homozygous (PubMed=32721894).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32721894
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 9,12
ST   D16S539: 9
ST   D18S51: 12,16
ST   D21S11: 31.2
ST   D3S1358: 14
ST   D5S818: 9,11
ST   D7S820: 11,13
ST   D8S1179: 13,16
ST   FGA: 21,24
ST   Penta D: 12,14
ST   Penta E: 7,15
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,18
DI   NCIt; C174441; Autoinflammation, panniculitis, and dermatosis syndrome
DI   ORDO; Orphanet_500062; Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32721894; DOI=10.1016/j.scr.2020.101921;
RA   Chen D., Li Z.-W., Liu Y.-T., Sampaio N., Yang D., Aksentijevich I.,
RA   Boehm M., Chen G.-B.;
RT   "Human induced pluripotent stem cells generated from a patient with a
RT   homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A).";
RL   Stem Cell Res. 47:101921-101921(2020).
//