ID   PKD2.78
AC   CVCL_XJ90
SY   PKD2iPSC c78
DR   Wikidata; Q98128608
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; HGNC:9020; PKLR; Simple; p.Ser120Phe (c.359C>T); ClinVar=VCV002432664; Zygosity=Heterozygous (PubMed=26549847).
CC   Sequence variation: Mutation; HGNC; HGNC:9020; PKLR; Simple; p.Asp390Asn (c.1168G>A); ClinVar=VCV001469002; Zygosity=Heterozygous (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: 19-12-24; Version: 9
//
RX   PubMed=26549847; DOI=10.1016/j.stemcr.2015.10.002; PMCID=PMC4682065;
RA   Garate, Zita
RA   Quintana-Bustamante, Oscar
RA   Crane, Ana M.
RA   Olivier, Emmanuel
RA   Poirot, Laurent
RA   Galetto, Roman
RA   Kosinski, Penelope
RA   Hill, Collin
RA   Kung, Charles
RA   Agirre, Xabier
RA   Orman, Israel
RA   Cerrato, Laura
RA   Alberquilla, Omaira
RA   Rodriguez-Fornes, Fatima
RA   Fusaki, Noemi
RA   Garcia-Sanchez, Felix
RA   Maia, Tabita M.
RA   Ribeiro, Maria Leticia
RA   Sevilla, Julian
RA   Prosper, Felipe
RA   Jin, Sheng-Fang
RA   Mountford, Joanne C.
RA   Guenechea, Guillermo
RA   Gouble, Agnes
RA   Bueren, Juan A.
RA   Davis, Brian R.
RA   Segovia, Jose Carlos
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).
//