ID   BSS1-PBMC-iPS4F4
AC   CVCL_DQ80
DR   Wikidata; Q54798412
RX   PubMed=27346198;
RX   PubMed=27596517;
CC   From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:4444; GP9; Simple; p.Trp87Arg (c.259T>C); ClinVar=VCV001691236; Zygosity=Homozygous (PubMed=27346198).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=27346198; PubMed=27596517
ST   Amelogenin: X
ST   CSF1PO: 10
ST   D13S317: 8,11
ST   D16S539: 11,12
ST   D18S51: 13,14
ST   D19S433: 13,14
ST   D21S11: 30
ST   D3S1358: 14,15
ST   D5S818: 11,12
ST   D7S820: 9,10
ST   D8S1179: 11,16
ST   FGA: 19,23
ST   TH01: 8,9.3
ST   TPOX: 8,9
ST   vWA: 17,18
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: 13-07-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=27346198; DOI=10.1016/j.scr.2016.04.013;
RA   Lopez-Onieva L., Montes R., Lamolda M., Romero T., Ayllon V.,
RA   Lozano M.L., Vicente V., Rivera J., Ramos-Mejia V., Real P.J.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from a
RT   Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX
RT   gene.";
RL   Stem Cell Res. 16:692-695(2016).
//
RX   PubMed=27596517; DOI=10.1016/j.scr.2016.07.008;
RA   Lopez-Onieva L., Montes R., Lamolda M., Romero T., Ayllon V.,
RA   Lozano M.L., Vicente V., Rivera J., Ramos-Mejia V., Real P.J.;
RT   "Corrigendum to 'Generation of induced pluripotent stem cells (iPSCs)
RT   from a Bernard-Soulier syndrome patient carrying a W71R mutation in
RT   the GPIX gene' [Stem Cell Res. 16/3 (2016) 692-695].";
RL   Stem Cell Res. 17:462-462(2016).
//