ID   SANi005-A
AC   CVCL_QY84
SY   BEL20 cl.8; BEL20.cl8
DR   hPSCreg; SANi005-A
DR   Wikidata; Q54952096
RX   PubMed=29055225;
CC   From: Sanquin; Amsterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; 4238; GFI1B; Simple; p.Gln287Ter (c.859C>T); ClinVar=VCV000102428; Zygosity=Heterozygous (PubMed=29055225).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142084; Bleeding disorder, platelet-type 17
DI   ORDO; Orphanet_721; Gray platelet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   79Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29055225; DOI=10.1016/j.scr.2017.10.008;
RA   Hansen M., Varga E., Wust T., Mellink C.,
RA   van der Kevie-Kersemaekers A.-M., Marneth A.E., von Lindern M.,
RA   van der Reijden B., van den Akker E.;
RT   "Generation and characterization of a human iPSC line SANi005-A
RT   containing the gray platelet associated heterozygous mutation p.Q287*
RT   in GFI1B.";
RL   Stem Cell Res. 25:34-37(2017).
//