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Cellosaurus PKD2.78 (CVCL_XJ90)

[Text version]
Cell line name PKD2.78
Synonyms PKD2iPSC c78
Accession CVCL_XJ90
Resource Identification Initiative To cite this cell line use: PKD2.78 (RRID:CVCL_XJ90)
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; 9020; PKLR; Simple; p.Ser120Phe (c.359C>T); ClinVar=VCV002432664; Zygosity=Heterozygous (PubMed=26549847).
  • Mutation; HGNC; 9020; PKLR; Simple; p.Asp390Asn (c.1168G>A); ClinVar=VCV001469002; Zygosity=Heterozygous (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
Garate Z., Quintana-Bustamante O., Crane A.M., Olivier E., Poirot L., Galetto R., Kosinski P., Hill C., Kung C., Agirre X., Orman I., Cerrato L., Alberquilla O., Rodriguez-Fornes F., Fusaki N., Garcia-Sanchez F., Maia T.M., Ribeiro M.L., Sevilla J., Prosper F., Jin S.-F., Mountford J.C., Guenechea G., Gouble A., Bueren J.A., Davis B.R., Segovia J.C.
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; Q98128608
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8