ID   BSS3-PBMC-iPS4F8
AC   CVCL_QX24
DR   Wikidata; Q54798416
RX   PubMed=28395735;
CC   From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:4444; GP9; Simple; p.Phe71Ser (c.212T>C); ClinVar=VCV000013531; Zygosity=Homozygous (PubMed=28395735).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=28395735
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11
ST   D16S539: 12
ST   D21S11: 29
ST   D5S818: 12,13
ST   D7S820: 10,11
ST   TH01: 6
ST   TPOX: 11
ST   vWA: 17
DI   NCIt; C84595; Bernard-Soulier syndrome
DI   ORDO; Orphanet_274; Bernard-Soulier syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 10
//
RX   PubMed=28395735; DOI=10.1016/j.scr.2017.02.001;
RA   Lopez-Onieva L., Lamolda M., Montes R., Lozano M.L., Vicente V.,
RA   Rivera J., Ramos-Mejia V., Real P.J.;
RT   "Induced pluripotent stem cells derived from Bernard-Soulier syndrome
RT   patient's peripheral blood cells with a p.Phe55Ser mutation in the
RT   GPIX gene.";
RL   Stem Cell Res. 20:10-13(2017).
//