Cellosaurus cell line PKD2.78 (CVCL

Cellosaurus PKD2.78 (CVCL_XJ90)

Cross-references
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; HGNC:9020; PKLR; Simple; p.Ser120Phe (c.359C>T); ClinVar=VCV002432664; Zygosity=Heterozygous (PubMed=26549847). Mutation; HGNC; 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 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)
Encyclopedic resources	Wikidata; Q98128608
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9