ID   NIHTVBi001-A
AC   CVCL_WU70
SY   iPSCp117
DR   hPSCreg; NIHTVBi001-A
DR   Wikidata; Q98127860
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
ST   CSF1PO: 10,12
ST   D13S317: 11,14
ST   D16S539: 11
ST   D18S51: 13,19
ST   D21S11: 30
ST   D3S1358: 14,17
ST   D5S818: 12
ST   D7S820: 7,11
ST   D8S1179: 12,13
ST   FGA: 20,23
ST   Penta D: 10,13
ST   Penta E: 7,20
ST   TH01: 6,9
ST   TPOX: 10,11
ST   vWA: 15,16
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   60Y
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).
//