ID   BSS2-PBMC-iPS4F24
AC   CVCL_QX25
DR   Wikidata; Q54798414
RX   PubMed=27934591;
CC   From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:4444; GP9; Simple; p.Asn61Ser (c.182A>G); ClinVar=VCV000013529; Zygosity=Homozygous (PubMed=27934591).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=27934591
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 11
ST   D16S539: 9
ST   D21S11: 30,32
ST   D5S818: 12
ST   D7S820: 10
ST   TH01: 9,9.3
ST   TPOX: 9,11
ST   vWA: 16,18
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: 15-11-17; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27934591; DOI=10.1016/j.scr.2016.11.012;
RA   Lopez-Onieva L., Machuca-Arellano C., Lamolda M., Montes R., Lozano M.L.,
RA   Vicente V., Rivera J., Ramos-Mejia V., Real P.J.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line from
RT   a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the
RT   GPIX gene.";
RL   Stem Cell Res. 17:603-606(2016).
//