ID   NIHTVBi003-A
AC   CVCL_WU72
SY   iPSCp120
DR   hPSCreg; NIHTVBi003-A
DR   Wikidata; Q98127865
RX   PubMed=31234109;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Sequence variation: Mutation; HGNC; 1606; CCR5; Simple; p.Ser185Ilefs*32 (c.554_585del32) (CCR5del32); ClinVar=VCV000008184; Zygosity=Homozygous (PubMed=31234109).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=31234109
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 9,10
ST   D16S539: 11,13
ST   D18S51: 13,14
ST   D21S11: 29,30
ST   D3S1358: 14
ST   D5S818: 11,12
ST   D7S820: 8,14
ST   D8S1179: 10,13
ST   FGA: 22,23
ST   Penta D: 11,12
ST   Penta E: 10,11
ST   TH01: 7,9.3
ST   TPOX: 8,11
ST   vWA: 17
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31234109; DOI=10.1016/j.scr.2019.101481;
RA   Chen G.-B., Jin H., Yu Z., Liu Y.-T., Li Z.-W., Navarengom K.B.,
RA   Schwartzbeck R., Dmitrieva N., Cudrici C., Ferrante E.A.,
RA   Biesecker L.G., Yang D., Boehm M.;
RT   "Generation of human induced pluripotent stem cells from individuals
RT   with a homozygous CCR5Delta32 mutation.";
RL   Stem Cell Res. 38:101481-101481(2019).
//