ID   PKD3.54
AC   CVCL_XJ91
SY   PKD3iPSC c54
DR   Wikidata; Q98128609
RX   PubMed=26549847;
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas (CIEMAT); Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; 9020; PKLR; Simple; c.1269+1G>C (IVS9+1G>C); Zygosity=Homozygous; Note=Splice donor mutation (PubMed=26549847).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C99037; Pyruvate kinase deficiency
DI   ORDO; Orphanet_766; Hemolytic anemia due to red cell pyruvate kinase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=26549847; DOI=10.1016/j.stemcr.2015.10.002;
RA   Garate Z., Quintana-Bustamante O., Crane A.M., Olivier E., Poirot L.,
RA   Galetto R., Kosinski P., Hill C., Kung C., Agirre X., Orman I.,
RA   Cerrato L., Alberquilla O., Rodriguez-Fornes F., Fusaki N.,
RA   Garcia-Sanchez F., Maia T.M., Ribeiro M.L., Sevilla J., Prosper F.,
RA   Jin S.-F., Mountford J.C., Guenechea G., Gouble A., Bueren J.A.,
RA   Davis B.R., Segovia J.C.;
RT   "Generation of a high number of healthy erythroid cells from
RT   gene-edited pyruvate kinase deficiency patient-specific induced
RT   pluripotent stem cells.";
RL   Stem Cell Reports 5:1053-1066(2015).
//