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Cellosaurus PKD3.54 (CVCL_XJ91)

[Text version]
Cell line name PKD3.54
Synonyms PKD3iPSC c54
Accession CVCL_XJ91
Resource Identification Initiative To cite this cell line use: PKD3.54 (RRID:CVCL_XJ91)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas (CIEMAT); Madrid; Spain.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9020; PKLR; Simple; c.1269+1G>C (IVS9+1G>C); Zygosity=Homozygous; Note=Splice donor mutation (PubMed=26549847).
Disease Pyruvate kinase deficiency (NCIt: C99037)
Hemolytic anemia due to red cell pyruvate kinase deficiency (ORDO: Orphanet_766)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Publications

PubMed=26549847; DOI=10.1016/j.stemcr.2015.10.002; PMCID=PMC4682065
Zita Garate, Oscar Quintana-Bustamante, Ana M. Crane, Emmanuel Olivier, Laurent Poirot, Roman Galetto, Penelope Kosinski, Collin Hill, Charles Kung, Xabier Agirre, Israel Orman ...Show all 27 authors... , Laura Cerrato, Omaira Alberquilla, Fatima Rodriguez-Fornes, Noemi Fusaki, Felix Garcia-Sanchez, Tabita M. Maia, Maria Leticia Ribeiro, Julian Sevilla, Felipe Prosper, Sheng-Fang Jin, Joanne C. Mountford, Guillermo Guenechea, Agnes Gouble, Juan A. Bueren, Brian R. Davis, Jose Carlos Segovia; Show fewer authors
Generation of a high number of healthy erythroid cells from gene-edited pyruvate kinase deficiency patient-specific induced pluripotent stem cells.
Stem Cell Reports 5:1053-1066(2015)

Cross-references
Encyclopedic resources Wikidata; Q98128609
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number8