ID   GENYOi005-A
AC   CVCL_WZ24
SY   FPD/AML-PBMC-iPSC4F73
DR   BioSamples; SAMEA5959283
DR   hPSCreg; GENYOi005-A
DR   Wikidata; Q93560855
RX   PubMed=31698193;
CC   From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
CC   Sequence variation: Heterozygous for RUNX1 p.Thr196Ala (c.586A>G) (PubMed=31698193).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C162696; Familial platelet disorder with associated myeloid malignancy
DI   ORDO; Orphanet_71290; Familial platelet disorder with associated myeloid malignancy
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 02-07-20; Version: 3
//
RX   PubMed=31698193; DOI=10.1016/j.scr.2019.101603;
RA   Lamolda M., Montes R., Simon I., Perales S., Martinez-Navajas G.,
RA   Lopez-Onieva L., Rios-Pelegrina R., Del Moral R.G., Grinan-Lison C.,
RA   Marchal J.A., Lozano M.L., Ramos-Mejia V., Rivera J., Bastida J.M.,
RA   Real P.J.;
RT   "GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated
RT   from a patient with familial platelet disorder with associated myeloid
RT   malignancy (FPDMM) carrying a p.Thr196Ala variant.";
RL   Stem Cell Res. 41:101603-101603(2019).
//