ID   GENYOi005-A
DR   BioSamples; SAMEA5959283
DR   hPSCreg; GENYOi005-A
DR   Wikidata; Q93560855
RX   PubMed=31698193;
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; 10471; RUNX1; Simple; p.Thr196Ala (c.586A>G); ClinVar=VCV000988811; Zygosity=Heterozygous (PubMed=31698193).
CC   Misspelling: FDP/AML-PBMC-iPSC4F73; Note=In Spanish stem cell bank documentation.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 11,12
ST   D16S539: 10,13
ST   D18S51: 16,19
ST   D19S433: 11,14
ST   D21S11: 28,33.2
ST   D2S1338: 18,19
ST   D3S1358: 15,18
ST   D5S818: 11,12
ST   D7S820: 9,11
ST   D8S1179: 13,16
ST   FGA: 19,27
ST   TH01: 6,9
ST   TPOX: 11
ST   vWA: 15,17
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 (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 30-01-24; Version: 9
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).