title: A validated cellular biobank for β-thalassemia.
abstract: Cellular biobanking is a key resource for collaborative networks planning to use same cells in studies aimed at solving a variety of biological and biomedical issues. This approach is of great importance in studies on β-thalassemia, since the recruitment of patients and collection of specimens can represent a crucial and often limiting factor in the experimental planning.
  
  
  
  Erythroid precursor cells were obtained from 72 patients, mostly β-thalassemic, expanded and cryopreserved. Expression of globin genes was analyzed by real time RT-qPCR. Hemoglobin production was studied by HPLC.
  
  
  
  In this paper we describe the production and validation of a Thal-Biobank constituted by expanded erythroid precursor cells from β-thalassemia patients. The biobanked samples were validated for maintenance of their phenotype after (a) cell isolation from same patients during independent phlebotomies, (b) freezing step in different biobanked cryovials, (c) thawing step and analysis at different time points. Reproducibility was confirmed by shipping the frozen biobanked cells to different laboratories, where the cells were thawed, cultured and analyzed using the same standardized procedures. The biobanked cells were stratified on the basis of their baseline level of fetal hemoglobin production and exposed to fetal hemoglobin inducers.
  
  
  
  The use of biobanked cells allows stratification of the patients with respect to fetal hemoglobin production and can be used for determining the response to the fetal hemoglobin inducer hydroxyurea and to gene therapy protocols with reproducible results.
authors: Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
authors: Lucia Carmela
authors: LC
authors: Cosenza
authors: Department of Hematology-Oncology, Weill Cornell Medical College, New York, NY, USA. bredal@email.chop.edu.|Department of Hematology, Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Abramson Research Center Philadelphia, Philadelphia, PA, 19104, USA. bredal@email.chop.edu.
authors: Laura
authors: L
authors: Breda
authors: Laboratory for the Development of Gene and Pharmacogenomic Therapy of Thalassemia, Biotechnology Centre of Ferrara University, Ferrara, Italy.
authors: Giulia
authors: G
authors: Breveglieri
authors: Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
authors: Cristina
authors: C
authors: Zuccato
authors: Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
authors: Alessia
authors: A
authors: Finotti
authors: Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
authors: Ilaria
authors: I
authors: Lampronti
authors: Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
authors: Monica
authors: M
authors: Borgatti
authors: Servizio di Immunoematologia e Trasfusione, S.I.T., ULSS 18, Rovigo, Italy.
authors: Francesco
authors: F
authors: Chiavilli
authors: Dipartimento di Scienze Mediche-Pediatria, Università di Ferrara, Ferrara, Italy.
authors: Maria Rita
authors: MR
authors: Gamberini
authors: Clinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, Italy.
authors: Stefania
authors: S
authors: Satta
authors: Clinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, Italy.
authors: Laura
authors: L
authors: Manunza
authors: Clinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, Italy.
authors: Franca Rosa
authors: FR
authors: De Martis
authors: Clinica Pediatrica 2a, Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, Italy.
authors: Paolo
authors: P
authors: Moi
authors: Department of Hematology-Oncology, Weill Cornell Medical College, New York, NY, USA.|Department of Hematology, Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Abramson Research Center Philadelphia, Philadelphia, PA, 19104, USA.
authors: Stefano
authors: S
authors: Rivella
authors: Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy. gam@unife.it.|Laboratory for the Development of Gene and Pharmacogenomic Therapy of Thalassemia, Biotechnology Centre of Ferrara University, Ferrara, Italy. gam@unife.it.
authors: Roberto
authors: R
authors: Gambari
authors: Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
authors: Nicoletta
authors: N
authors: Bianchi
mesh_terms: D018952:Antigens, CD34 / Q000378:metabolism; D018070:Biological Specimen Banks; D015415:Biomarkers / Q000378:metabolism; D002454:Cell Differentiation / Q000187:drug effects; D002478:Cells, Cultured; D002851:Chromatography, High Pressure Liquid; D015925:Cryopreservation; D015672:Erythroid Precursor Cells / Q000187:drug effects / Q000378:metabolism; D004921:Erythropoietin / Q000494:pharmacology; D005319:Fetal Hemoglobin / Q000378:metabolism; D006454:Hemoglobins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007700:Kinetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D015203:Reproducibility of Results; D017086:beta-Thalassemia / Q000473:pathology*
chemical_list: D018952:Antigens, CD34; D015415:Biomarkers; D006454:Hemoglobins; D012333:RNA, Messenger; D004921:Erythropoietin; D005319:Fetal Hemoglobin
keywords: Biobanking; Gene therapy; HbF induction; Thalassemia